Linked Data
ClinVar Variation Id:
973373
dbSNP Id:
rs1480273410
gnomAD v2:
6-35467908-G-A
gnomAD v3:
6-35500131-G-A
gnomAD v4:
6-35500131-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35500131G>A , CM000668.2:g.35500131G>A | GRCh38 |
| NC_000006.11:g.35467908G>A , CM000668.1:g.35467908G>A | GRCh37 |
| NC_000006.10:g.35575886G>A | NCBI36 |
| NG_009077.1:g.17740C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.1345C>T MANE Select | ENSP00000229771.6:p.Arg449Cys | |
| ENST00000229771.10:c.1345C>T | ENSP00000229771.6:p.Arg449Cys | |
| ENST00000322263.8:c.1186C>T | ENSP00000319414.4:p.Arg396Cys | |
| ENST00000495781.1:n.521C>T | ||
| ENST00000614066.4:c.1339C>T | ENSP00000477534.1:p.Arg447Cys | |
| NM_001289395.1:c.1186C>T | NP_001276324.1:p.Arg396Cys | |
| NM_003322.4:c.1345C>T | NP_003313.3:p.Arg449Cys | |
| NM_003322.5:c.1345C>T | NP_003313.3:p.Arg449Cys | |
| NM_003322.6:c.1345C>T MANE Select | NP_003313.3:p.Arg449Cys | |
| NM_001289395.2:c.1186C>T | NP_001276324.1:p.Arg396Cys |