Linked Data
ClinVar Variation Id:
39569
ClinVar RCV Id:
RCV000032769
dbSNP Id:
rs201105857
ExAC:
5:177649565 C / T
gnomAD v2:
5-177649565-C-T
gnomAD v3:
5-178222564-C-T
gnomAD v4:
5-178222564-C-T
MyVariant Identifiers:
chr5:g.177649565C>T (hg19)
chr5:g.177649565_177649566delinsTG (hg19)
chr5:g.178222564C>T (hg38)
chr5:g.178222564_178222565delinsTG (hg38)
PubMed:
PMID:23242558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178222564C>T , CM000667.2:g.178222564C>T | GRCh38 |
| NC_000005.9:g.177649565C>T , CM000667.1:g.177649565C>T | GRCh37 |
| NC_000005.8:g.177582171C>T | NCBI36 |
| NG_033253.1:g.15259G>A | |
| NG_033253.2:g.15259G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308158.10:c.718G>A MANE Select | ENSP00000310978.5:p.Gly240Arg | |
| ENST00000308158.9:c.718G>A | ENSP00000310978.5:p.Gly240Arg | |
| ENST00000474052.5:c.*178-72G>A | ENSP00000423806.1:n.*178-72G>A | |
| ENST00000476487.5:n.663G>A | ||
| ENST00000481436.5:n.1014-72G>A | ||
| ENST00000481811.5:n.360-5573G>A | ||
| ENST00000489262.5:n.1782G>A | ||
| ENST00000493197.5:c.*771G>A | ENSP00000425425.1:n.*771G>A | |
| ENST00000494126.6:n.1645G>A | ||
| ENST00000506045.1:c.84-19G>A | ENSP00000427444.1:n.84-19G>A | |
| ENST00000510913.5:c.555G>A | ENSP00000424608.1:n.555G>A | |
| ENST00000510991.5:n.381+7376G>A | ||
| NM_001278346.1:c.595G>A | NP_001265275.1:p.Gly199Arg | |
| NM_153373.3:c.718G>A | NP_699204.1:p.Gly240Arg | |
| NR_103508.1:n.648-72G>A | ||
| NR_103509.1:n.1694G>A | ||
| NR_103510.1:n.1211G>A | ||
| XM_005266002.1:c.124G>A | XP_005266059.1:p.Gly42Arg | |
| XM_006714925.1:c.611-19G>A | XP_006714988.1:n.611-19G>A | |
| XM_006714926.2:c.702-19G>A | XP_006714989.1:n.702-19G>A | |
| XM_011534669.1:c.748G>A | XP_011532971.1:p.Gly250Arg | |
| XM_011534670.1:c.745G>A | XP_011532972.1:p.Gly249Arg | |
| XM_011534671.1:c.736G>A | XP_011532973.1:p.Gly246Arg | |
| XM_011534672.1:c.625G>A | XP_011532974.1:p.Gly209Arg | |
| XM_011534673.1:c.702-72G>A | XP_011532975.1:n.702-72G>A | |
| XM_011534674.1:c.422-19G>A | XP_011532976.1:n.422-19G>A | |
| XM_011534675.1:c.748G>A | XP_011532977.1:p.Gly250Arg | |
| XM_011534676.1:c.190G>A | XP_011532978.1:p.Gly64Arg | |
| XM_011534677.1:c.154G>A | XP_011532979.1:p.Gly52Arg | |
| XM_011534678.1:c.170-19G>A | XP_011532980.1:n.170-19G>A | |
| XR_427812.1:n.952G>A | ||
| XR_941114.1:n.982G>A | ||
| XR_941115.1:n.982G>A | ||
| XR_941116.1:n.936-72G>A | ||
| XR_941117.1:n.936-72G>A | ||
| XM_006714925.2:c.611-19G>A | XP_006714988.1:n.611-19G>A | |
| XM_011534669.2:c.748G>A | XP_011532971.1:p.Gly250Arg | |
| XM_011534670.3:c.745G>A | XP_011532972.1:p.Gly249Arg | |
| XM_011534671.2:c.736G>A | XP_011532973.1:p.Gly246Arg | |
| XM_011534672.2:c.625G>A | XP_011532974.1:p.Gly209Arg | |
| XM_011534674.2:c.422-19G>A | XP_011532976.1:n.422-19G>A | |
| XM_017009995.1:c.748G>A | XP_016865484.1:p.Gly250Arg | |
| XM_017009998.2:c.488-19G>A | XP_016865487.1:n.488-19G>A | |
| XM_017009999.2:c.190G>A | XP_016865488.1:p.Gly64Arg | |
| XM_024446240.1:c.702-72G>A | XP_024302008.1:n.702-72G>A | |
| XM_024446241.1:c.748G>A | XP_024302009.1:p.Gly250Arg | |
| XM_024446242.1:c.322G>A | XP_024302010.1:p.Gly108Arg | |
| XM_024446243.1:c.190G>A | XP_024302011.1:p.Gly64Arg | |
| XM_024446244.1:c.160G>A | XP_024302012.1:p.Gly54Arg | |
| XM_024446245.1:c.154G>A | XP_024302013.1:p.Gly52Arg | |
| XM_024446246.1:c.170-19G>A | XP_024302014.1:n.170-19G>A | |
| XM_024446247.1:c.170-19G>A | XP_024302015.1:n.170-19G>A | |
| XM_024446248.1:c.133G>A | XP_024302016.1:p.Gly45Arg | |
| XM_024446249.1:c.124G>A | XP_024302017.1:p.Gly42Arg | |
| XM_024446250.1:c.124G>A | XP_024302018.1:p.Gly42Arg | |
| XM_024446252.1:c.702-19G>A | XP_024302020.1:n.702-19G>A | |
| XR_002956186.1:n.982G>A | ||
| XR_002956187.1:n.982G>A | ||
| XR_002956188.1:n.952G>A | ||
| XR_002956189.1:n.845-19G>A | ||
| XR_002956190.1:n.982G>A | ||
| XR_002956191.1:n.982G>A | ||
| XR_002956192.1:n.952G>A | ||
| XR_002956193.1:n.936-72G>A | ||
| XR_002956194.1:n.936-72G>A | ||
| XR_002956195.1:n.891G>A | ||
| XR_002956196.1:n.879G>A | ||
| NM_153373.4:c.718G>A MANE Select | NP_699204.1:p.Gly240Arg |