Linked Data
ClinVar Variation Id:
266022
ClinVar RCV Id:
RCV000256464
dbSNP Id:
rs149170494
gnomAD v2:
16-68349977-G-C
gnomAD v3:
16-68316074-G-C
gnomAD v4:
16-68316074-G-C
PubMed:
PMID:26437029
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68316074G>C , CM000678.2:g.68316074G>C | GRCh38 |
| NC_000016.9:g.68349977G>C , CM000678.1:g.68349977G>C | GRCh37 |
| NC_000016.8:g.66907478G>C | NCBI36 |
| NG_054896.1:g.10101G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000562050.6:c.95G>C | ENSP00000457381.2:p.Arg32Thr | |
| ENST00000564441.6:n.210G>C | ||
| ENST00000565745.6:c.95G>C | ENSP00000456190.2:p.Arg32Thr | |
| ENST00000685109.1:c.95G>C | ENSP00000510738.1:p.Arg32Thr | |
| ENST00000685141.1:c.95G>C | ENSP00000510413.1:p.Arg32Thr | |
| ENST00000686053.1:c.-683+3898G>C | ENSP00000509773.1:n.-683+3898G>C | |
| ENST00000686904.1:c.95G>C | ENSP00000510630.1:p.Arg32Thr | |
| ENST00000687444.1:c.95G>C | ENSP00000508888.1:p.Arg32Thr | |
| ENST00000687558.1:c.95G>C | ENSP00000509003.1:p.Arg32Thr | |
| ENST00000687654.1:c.95G>C | ENSP00000509677.1:p.Arg32Thr | |
| ENST00000688470.1:n.259G>C | ||
| ENST00000688969.1:c.95G>C | ENSP00000509113.1:p.Arg32Thr | |
| ENST00000689486.1:c.95G>C | ENSP00000509523.1:p.Arg32Thr | |
| ENST00000689637.1:c.95G>C | ENSP00000509781.1:p.Arg32Thr | |
| ENST00000690311.1:c.-17+3898G>C | ENSP00000509264.1:n.-17+3898G>C | |
| ENST00000690432.1:n.403G>C | ||
| ENST00000690932.1:c.95G>C | ENSP00000509008.1:p.Arg32Thr | |
| ENST00000691663.1:c.-13+3898G>C | ENSP00000510167.1:n.-13+3898G>C | |
| ENST00000691804.1:c.95G>C | ENSP00000509455.1:p.Arg32Thr | |
| ENST00000691833.1:c.-260+3898G>C | ENSP00000510744.1:n.-260+3898G>C | |
| ENST00000691961.1:c.95G>C | ENSP00000510574.1:p.Arg32Thr | |
| ENST00000692283.1:c.-106G>C | ENSP00000508499.1:n.-106G>C | |
| ENST00000692621.1:c.95G>C | ENSP00000509231.1:p.Arg32Thr | |
| ENST00000692632.1:c.95G>C | ENSP00000510669.1:p.Arg32Thr | |
| ENST00000692760.1:c.95G>C | ENSP00000510748.1:p.Arg32Thr | |
| ENST00000692867.1:n.403G>C | ||
| ENST00000692966.1:c.95G>C | ENSP00000510428.1:p.Arg32Thr | |
| ENST00000693200.1:c.95G>C | ENSP00000508937.1:p.Arg32Thr | |
| ENST00000693309.1:c.95G>C | ENSP00000510806.1:p.Arg32Thr | |
| ENST00000693670.1:n.403G>C | ||
| ENST00000441236.3:c.95G>C MANE Select | ENSP00000409324.2:p.Arg32Thr | |
| ENST00000675132.1:c.95G>C | ENSP00000501903.1:p.Arg32Thr | |
| ENST00000339507.9:c.95G>C | ENSP00000343103.5:p.Arg32Thr | |
| ENST00000441236.2:c.95G>C | ENSP00000409324.2:p.Arg32Thr | |
| ENST00000449359.7:c.95G>C | ENSP00000414716.3:p.Arg32Thr | |
| ENST00000561806.5:n.195G>C | ||
| ENST00000562050.5:c.95G>C | ENSP00000457381.1:p.Arg32Thr | |
| ENST00000562381.7:c.95G>C | ENSP00000456364.3:p.Arg32Thr | |
| ENST00000562456.1:n.124G>C | ||
| ENST00000563520.5:n.30+4975G>C | ||
| ENST00000563562.5:n.233G>C | ||
| ENST00000564050.6:n.46+4975G>C | ||
| ENST00000564441.5:n.184+3898G>C | ||
| ENST00000565356.5:n.214G>C | ||
| ENST00000565745.5:c.95G>C | ENSP00000456190.1:p.Arg32Thr | |
| ENST00000566341.5:c.95G>C | ENSP00000455705.1:p.Arg32Thr | |
| ENST00000566430.2:n.96G>C | ||
| ENST00000566657.5:c.95G>C | ENSP00000454980.1:p.Arg32Thr | |
| ENST00000568975.5:c.95G>C | ENSP00000454776.1:p.Arg32Thr | |
| ENST00000569047.7:c.95G>C | ENSP00000456848.3:p.Arg32Thr | |
| ENST00000569571.5:c.95G>C | ENSP00000455538.1:p.Arg32Thr | |
| NM_001184824.1:c.95G>C | NP_001171753.1:p.Arg32Thr | |
| NM_001290018.1:c.95G>C | NP_001276947.1:p.Arg32Thr | |
| NM_019023.2:c.95G>C | NP_061896.1:p.Arg32Thr | |
| XM_005255991.1:c.95G>C | XP_005256048.1:p.Arg32Thr | |
| XM_006721199.2:c.95G>C | XP_006721262.1:p.Arg32Thr | |
| XM_011523112.1:c.95G>C | XP_011521414.1:p.Arg32Thr | |
| XM_011523113.1:c.95G>C | XP_011521415.1:p.Arg32Thr | |
| XM_011523114.1:c.95G>C | XP_011521416.1:p.Arg32Thr | |
| XM_011523115.1:c.95G>C | XP_011521417.1:p.Arg32Thr | |
| XM_011523116.1:c.95G>C | XP_011521418.1:p.Arg32Thr | |
| XM_011523117.1:c.95G>C | XP_011521419.1:p.Arg32Thr | |
| XM_011523118.1:c.95G>C | XP_011521420.1:p.Arg32Thr | |
| XM_011523119.1:c.95G>C | XP_011521421.1:p.Arg32Thr | |
| XM_011523120.1:c.95G>C | XP_011521422.1:p.Arg32Thr | |
| XM_011523121.1:c.34G>C | XP_011521423.1:p.Glu12Gln | |
| XM_011523122.1:c.95G>C | XP_011521424.1:p.Arg32Thr | |
| XM_011523123.1:c.95G>C | XP_011521425.1:p.Arg32Thr | |
| XM_011523124.1:c.-106G>C | XP_011521426.1:n.-106G>C | |
| XM_011523125.1:c.-106G>C | XP_011521427.1:n.-106G>C | |
| XM_011523126.1:c.-106G>C | XP_011521428.1:n.-106G>C | |
| XM_011523127.1:c.95G>C | XP_011521429.1:p.Arg32Thr | |
| XM_011523128.1:c.-196G>C | XP_011521430.1:n.-196G>C | |
| XM_011523129.1:c.95G>C | XP_011521431.1:p.Arg32Thr | |
| XR_243413.1:n.304G>C | ||
| XR_933336.1:n.304G>C | ||
| XR_933339.1:n.304G>C | ||
| NM_001184824.2:c.95G>C | NP_001171753.1:p.Arg32Thr | |
| NM_001351143.1:c.95G>C | NP_001338072.1:p.Arg32Thr | |
| NM_001351144.1:c.95G>C | NP_001338073.1:p.Arg32Thr | |
| NM_019023.3:c.95G>C | NP_061896.1:p.Arg32Thr | |
| NR_147056.1:n.327G>C | ||
| NR_147057.1:n.462G>C | ||
| NR_147058.1:n.462G>C | ||
| XM_011523112.3:c.95G>C | XP_011521414.1:p.Arg32Thr | |
| XM_011523113.3:c.95G>C | XP_011521415.1:p.Arg32Thr | |
| XM_011523115.3:c.95G>C | XP_011521417.1:p.Arg32Thr | |
| XM_011523116.3:c.95G>C | XP_011521418.1:p.Arg32Thr | |
| XM_011523121.3:c.34G>C | XP_011521423.1:p.Glu12Gln | |
| XM_011523124.3:c.-106G>C | XP_011521426.1:n.-106G>C | |
| XM_011523125.3:c.-106G>C | XP_011521427.1:n.-106G>C | |
| XM_011523126.3:c.-106G>C | XP_011521428.1:n.-106G>C | |
| XM_011523128.3:c.-196G>C | XP_011521430.1:n.-196G>C | |
| XM_017023292.2:c.95G>C | XP_016878781.1:p.Arg32Thr | |
| XM_017023295.2:c.95G>C | XP_016878784.1:p.Arg32Thr | |
| XM_017023296.2:c.95G>C | XP_016878785.1:p.Arg32Thr | |
| XM_017023297.2:c.95G>C | XP_016878786.1:p.Arg32Thr | |
| XM_017023298.2:c.95G>C | XP_016878787.1:p.Arg32Thr | |
| XM_017023299.2:c.95G>C | XP_016878788.1:p.Arg32Thr | |
| XM_017023300.2:c.95G>C | XP_016878789.1:p.Arg32Thr | |
| XM_017023301.2:c.95G>C | XP_016878790.1:p.Arg32Thr | |
| XM_017023302.2:c.-106G>C | XP_016878791.1:n.-106G>C | |
| XM_017023303.2:c.-106G>C | XP_016878792.1:n.-106G>C | |
| XM_017023304.2:c.95G>C | XP_016878793.1:p.Arg32Thr | |
| XM_017023305.2:c.34G>C | XP_016878794.1:p.Glu12Gln | |
| XM_017023308.1:c.-106G>C | XP_016878797.1:n.-106G>C | |
| XM_017023309.2:c.-106G>C | XP_016878798.1:n.-106G>C | |
| XM_017023310.1:c.-106G>C | XP_016878799.1:n.-106G>C | |
| XM_017023311.2:c.-196G>C | XP_016878800.1:n.-196G>C | |
| XM_017023312.2:c.95G>C | XP_016878801.1:p.Arg32Thr | |
| XR_001751915.2:n.420G>C | ||
| XR_001751917.2:n.394G>C | ||
| XR_001751920.1:n.402G>C | ||
| XR_001751921.2:n.236G>C | ||
| XR_001751922.1:n.236G>C | ||
| XR_001751923.1:n.402G>C | ||
| XR_001751924.1:n.357G>C | ||
| XR_002957814.1:n.420G>C | ||
| XR_002957815.1:n.394G>C | ||
| XR_002957816.1:n.296G>C | ||
| XR_002957817.1:n.296G>C | ||
| XR_002957818.1:n.248G>C | ||
| XR_002957819.1:n.402G>C | ||
| XR_002957820.1:n.402G>C | ||
| XR_002957821.1:n.236G>C | ||
| XR_002957822.1:n.402G>C | ||
| XR_002957823.1:n.357G>C | ||
| XR_002957824.1:n.215G>C | ||
| NM_001184824.3:c.95G>C | NP_001171753.1:p.Arg32Thr | |
| NM_001351143.2:c.95G>C | NP_001338072.1:p.Arg32Thr | |
| NM_001351144.2:c.95G>C | NP_001338073.1:p.Arg32Thr | |
| NM_019023.4:c.95G>C | NP_061896.1:p.Arg32Thr | |
| NR_147056.2:n.259G>C | ||
| NR_147057.2:n.394G>C | ||
| NR_147058.2:n.394G>C | ||
| NM_001184824.4:c.95G>C | NP_001171753.1:p.Arg32Thr | |
| NM_001290018.2:c.95G>C | NP_001276947.1:p.Arg32Thr | |
| NM_001351143.3:c.95G>C | NP_001338072.1:p.Arg32Thr | |
| NM_001351144.3:c.95G>C | NP_001338073.1:p.Arg32Thr | |
| NM_001378018.1:c.95G>C | NP_001364947.1:p.Arg32Thr | |
| NM_001378020.1:c.34G>C | NP_001364949.1:p.Glu12Gln | |
| NM_001378021.1:c.-106G>C | NP_001364950.1:n.-106G>C | |
| NM_001378022.1:c.-106G>C | NP_001364951.1:n.-106G>C | |
| NM_001378023.1:c.-106G>C | NP_001364952.1:n.-106G>C | |
| NM_019023.5:c.95G>C MANE Select | NP_061896.1:p.Arg32Thr | |
| NR_147056.3:n.259G>C | ||
| NR_147057.3:n.394G>C | ||
| NR_147058.3:n.394G>C | ||
| NR_165365.1:n.394G>C | ||
| NR_165366.1:n.259G>C | ||
| NR_165367.1:n.259G>C | ||
| NR_165368.1:n.394G>C | ||
| NR_165369.1:n.259G>C | ||
| NR_165370.1:n.259G>C | ||
| NR_165371.1:n.394G>C | ||
| NR_165372.1:n.394G>C | ||
| NR_165373.1:n.394G>C |