Linked Data
ClinVar Variation Id:
446303
dbSNP Id:
rs141210410
ExAC:
14:64884644 C / T
gnomAD v2:
14-64884644-C-T
gnomAD v3:
14-64417926-C-T
gnomAD v4:
14-64417926-C-T
PubMed:
PMID:21813566
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64417926C>T , CM000676.2:g.64417926C>T | GRCh38 |
| NC_000014.8:g.64884644C>T , CM000676.1:g.64884644C>T | GRCh37 |
| NC_000014.7:g.63954397C>T | NCBI36 |
| NG_012450.1:g.34886C>T | |
| NG_012450.2:g.34886C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555858.2:n.666C>T | ||
| ENST00000557539.2:c.274C>T | ENSP00000476468.2:p.Arg92Cys | |
| ENST00000697166.1:n.666C>T | ||
| ENST00000697167.1:c.517C>T | ENSP00000513155.1:p.Arg173Cys | |
| ENST00000697168.1:c.517C>T | ENSP00000513156.1:p.Arg173Cys | |
| ENST00000697169.1:c.517C>T | ENSP00000513157.1:p.Arg173Cys | |
| ENST00000697170.1:n.666C>T | ||
| ENST00000697171.1:c.517C>T | ENSP00000513158.1:p.Arg173Cys | |
| ENST00000697173.1:c.274C>T | ENSP00000513159.1:p.Arg92Cys | |
| ENST00000697174.1:c.478+2187C>T | ENSP00000513160.1:n.478+2187C>T | |
| ENST00000697175.1:c.274C>T | ENSP00000513161.1:p.Arg92Cys | |
| ENST00000697176.1:c.274C>T | ENSP00000513162.1:p.Arg92Cys | |
| ENST00000545908.6:c.517C>T | ENSP00000438588.2:p.Arg173Cys | |
| ENST00000554768.6:c.274C>T | ENSP00000477501.2:p.Arg92Cys | |
| ENST00000555709.7:c.479-1888C>T | ENSP00000450560.3:n.479-1888C>T | |
| ENST00000557370.3:c.517C>T | ENSP00000477199.2:p.Arg173Cys | |
| ENST00000650853.1:n.592C>T | ||
| ENST00000651537.1:c.517C>T | ENSP00000498511.1:p.Arg173Cys | |
| ENST00000652179.1:c.274C>T | ENSP00000498649.1:p.Arg92Cys | |
| ENST00000652337.1:c.517C>T MANE Select | ENSP00000498336.1:p.Arg173Cys | |
| ENST00000652503.1:n.141C>T | ||
| ENST00000216605.12:c.517C>T | ENSP00000216605.8:p.Arg173Cys | |
| ENST00000545908.5:c.685C>T | ENSP00000438588.1:p.Arg229Cys | |
| ENST00000555252.5:n.574C>T | ||
| ENST00000555709.6:c.685C>T | ENSP00000450560.2:p.Arg229Cys | |
| NM_005956.3:c.517C>T | NP_005947.3:p.Arg173Cys | |
| NM_001364837.1:c.517C>T | NP_001351766.1:p.Arg173Cys | |
| NM_005956.4:c.517C>T MANE Select | NP_005947.3:p.Arg173Cys |