Linked Data
ClinVar Variation Id:
197214
dbSNP Id:
rs200868061
ExAC:
3:55508461 G / A
gnomAD v2:
3-55508461-G-A
gnomAD v3:
3-55474433-G-A
gnomAD v4:
3-55474433-G-A
COSMIC:
COSM3596489
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.55474433G>A , CM000665.2:g.55474433G>A | GRCh38 |
| NC_000003.11:g.55508461G>A , CM000665.1:g.55508461G>A | GRCh37 |
| NC_000003.10:g.55483501G>A | NCBI36 |
| NG_031992.1:g.18210C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264634.9:c.588C>T MANE Select | ENSP00000264634.4:p.Phe196= | |
| ENST00000264634.8:c.588C>T | ENSP00000264634.4:p.Phe196= | |
| ENST00000474267.5:c.588C>T | ENSP00000417310.1:p.Phe196= | |
| ENST00000482079.1:c.543C>T | ENSP00000418184.1:p.Phe181= | |
| ENST00000497027.5:c.543C>T | ENSP00000420104.1:p.Phe181= | |
| ENST00000614415.1:c.178-4179C>T | ENSP00000478784.1:n.178-4179C>T | |
| NM_001256105.1:c.543C>T | NP_001243034.1:p.Phe181= | |
| NM_003392.4:c.588C>T | NP_003383.2:p.Phe196= | |
| XM_006713324.1:c.543C>T | XP_006713387.1:p.Phe181= | |
| XM_011534081.1:c.543C>T | XP_011532383.1:p.Phe181= | |
| XM_011534082.1:c.543C>T | XP_011532384.1:p.Phe181= | |
| XM_011534083.1:c.543C>T | XP_011532385.1:p.Phe181= | |
| XM_011534084.1:c.543C>T | XP_011532386.1:p.Phe181= | |
| XM_011534085.1:c.543C>T | XP_011532387.1:p.Phe181= | |
| XM_011534086.1:c.543C>T | XP_011532388.1:p.Phe181= | |
| XM_011534087.1:c.543C>T | XP_011532389.1:p.Phe181= | |
| XM_011534088.1:c.543C>T | XP_011532390.1:p.Phe181= | |
| XM_011534089.1:c.543C>T | XP_011532391.1:p.Phe181= | |
| XM_011534085.2:c.543C>T | XP_011532387.1:p.Phe181= | |
| XM_011534086.2:c.543C>T | XP_011532388.1:p.Phe181= | |
| XM_011534087.2:c.543C>T | XP_011532389.1:p.Phe181= | |
| XM_011534088.2:c.543C>T | XP_011532390.1:p.Phe181= | |
| XM_017007127.1:c.630C>T | XP_016862616.1:p.Phe210= | |
| XM_017007128.1:c.543C>T | XP_016862617.1:p.Phe181= | |
| NM_001377271.1:c.543C>T | NP_001364200.1:p.Phe181= | |
| NM_001377272.1:c.543C>T | NP_001364201.1:p.Phe181= | |
| NM_003392.5:c.543C>T | NP_003383.3:p.Phe181= | |
| NM_003392.7:c.588C>T MANE Select | NP_003383.4:p.Phe196= |