Linked Data
dbSNP Id:
rs41540317
ExAC:
6:31324040 G / A
gnomAD v2:
6-31324040-G-A
gnomAD v3:
6-31356263-G-A
gnomAD v4:
6-31356263-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356263G>A , CM000668.2:g.31356263G>A | GRCh38 |
| NC_000006.11:g.31324040G>A , CM000668.1:g.31324040G>A | GRCh37 |
| NC_000006.10:g.31432019G>A | NCBI36 |
| NG_023187.1:g.5950C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474381.2:n.1996C>T | ||
| ENST00000481849.6:n.1996C>T | ||
| ENST00000497377.6:n.1996C>T | ||
| ENST00000640094.2:c.523C>T | ENSP00000491275.2:p.Arg175Cys | |
| ENST00000696558.1:c.523C>T | ENSP00000512716.1:p.Arg175Cys | |
| ENST00000696559.1:c.523C>T | ENSP00000512717.1:p.Arg175Cys | |
| ENST00000696560.1:c.523C>T | ENSP00000512718.1:p.Arg175Cys | |
| ENST00000696561.1:c.523C>T | ENSP00000512719.1:p.Arg175Cys | |
| ENST00000696562.1:c.523C>T | ENSP00000512720.1:p.Arg175Cys | |
| ENST00000412585.7:c.523C>T MANE Select | ENSP00000399168.2:p.Arg175Cys | |
| ENST00000412585.6:c.523C>T | ENSP00000399168.2:p.Arg175Cys | |
| ENST00000434333.1:c.556C>T | ENSP00000405931.1:p.Arg186Cys | |
| ENST00000474381.1:n.398C>T | ||
| ENST00000498007.1:n.789C>T | ||
| NM_005514.6:c.523C>T | NP_005505.2:p.Arg175Cys | |
| XM_011514556.1:c.556C>T | XP_011512858.1:p.Arg186Cys | |
| XM_011514557.1:c.523C>T | XP_011512859.1:p.Arg175Cys | |
| XR_926175.1:n.533C>T | ||
| NM_005514.7:c.523C>T | NP_005505.2:p.Arg175Cys | |
| NM_005514.8:c.523C>T MANE Select | NP_005505.2:p.Arg175Cys |