Linked Data
ClinVar Variation Id:
39803
ClinVar RCV Id:
RCV000033024
dbSNP Id:
rs397514600
PubMed:
PMID:22926851
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67174230G>C , CM000678.2:g.67174230G>C | GRCh38 |
| NC_000016.9:g.67208133G>C , CM000678.1:g.67208133G>C | GRCh37 |
| NC_000016.8:g.65765634G>C | NCBI36 |
| NG_029566.1:g.8729G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000564992.2:c.61G>C MANE Select | ENSP00000457720.2:p.Glu21Gln | |
| ENST00000268605.11:c.61G>C | ENSP00000268605.7:p.Glu21Gln | |
| ENST00000563258.1:c.63+184G>C | ||
| ENST00000563439.5:c.61G>C | ENSP00000454256.1:p.Glu21Gln | |
| ENST00000564053.5:c.247G>C | ENSP00000457243.1:p.Glu83Gln | |
| ENST00000564992.1:c.61G>C | ENSP00000457720.1:p.Glu21Gln | |
| ENST00000565560.5:c.61G>C | ENSP00000457732.1:p.Glu21Gln | |
| ENST00000566871.5:c.165G>C | ||
| ENST00000568146.1:c.61G>C | ENSP00000454598.1:p.Glu21Gln | |
| ENST00000568503.1:n.162G>C | ||
| NM_001185057.2:c.61G>C | NP_001171986.1:p.Glu21Gln | |
| NM_001276307.1:c.61G>C | NP_001263236.1:p.Glu21Gln | |
| NM_001276309.1:c.61G>C | NP_001263238.1:p.Glu21Gln | |
| NM_001276311.1:c.61G>C | NP_001263240.1:p.Glu21Gln | |
| NM_001276312.1:c.61G>C | NP_001263241.1:p.Glu21Gln | |
| NM_001276319.1:c.247G>C | NP_001263248.1:p.Glu83Gln | |
| NM_003946.6:c.61G>C | NP_003937.1:p.Glu21Gln | |
| XM_005256217.1:c.247G>C | XP_005256274.1:p.Glu83Gln | |
| XM_005256219.2:c.247G>C | XP_005256276.1:p.Glu83Gln | |
| XM_006721322.2:c.247G>C | XP_006721385.1:p.Glu83Gln | |
| XM_006721323.2:c.61G>C | XP_006721386.1:p.Glu21Gln | |
| XM_011523424.1:c.61G>C | XP_011521726.1:p.Glu21Gln | |
| XM_011523425.1:c.61G>C | XP_011521727.1:p.Glu21Gln | |
| XM_011523426.1:c.61G>C | XP_011521728.1:p.Glu21Gln | |
| XM_005256217.3:c.247G>C | XP_005256274.1:p.Glu83Gln | |
| XM_005256219.4:c.247G>C | XP_005256276.1:p.Glu83Gln | |
| XM_011523424.2:c.61G>C | XP_011521726.1:p.Glu21Gln | |
| XM_017023843.2:c.247G>C | XP_016879332.1:p.Glu83Gln | |
| NM_001276307.2:c.61G>C | NP_001263236.1:p.Glu21Gln | |
| NM_001276312.2:c.61G>C | NP_001263241.1:p.Glu21Gln | |
| NM_001276319.2:c.247G>C | NP_001263248.1:p.Glu83Gln | |
| NM_001276309.2:c.61G>C | NP_001263238.1:p.Glu21Gln | |
| NM_001185057.3:c.61G>C | NP_001171986.1:p.Glu21Gln | |
| NM_001276307.3:c.61G>C | NP_001263236.1:p.Glu21Gln | |
| NM_001276309.3:c.61G>C MANE Select | NP_001263238.1:p.Glu21Gln | |
| NM_001276311.2:c.61G>C | NP_001263240.1:p.Glu21Gln | |
| NM_001276312.3:c.61G>C | NP_001263241.1:p.Glu21Gln | |
| NM_001394973.1:c.61G>C | NP_001381902.1:p.Glu21Gln | |
| NM_001394974.1:c.61G>C | NP_001381903.1:p.Glu21Gln | |
| NM_001394975.1:c.61G>C | NP_001381904.1:p.Glu21Gln | |
| NM_001394976.1:c.61G>C | NP_001381905.1:p.Glu21Gln | |
| NM_001394977.1:c.61G>C | NP_001381906.1:p.Glu21Gln | |
| NM_001394978.1:c.61G>C | NP_001381907.1:p.Glu21Gln | |
| NM_001394979.1:c.61G>C | NP_001381908.1:p.Glu21Gln | |
| NM_003946.7:c.61G>C | NP_003937.1:p.Glu21Gln |