Linked Data
ClinVar Variation Id:
2186477
ClinVar RCV Id:
RCV002623278
dbSNP Id:
rs368811969
ExAC:
6:24302037 G / A
gnomAD v2:
6-24302037-G-A
gnomAD v3:
6-24301809-G-A
gnomAD v4:
6-24301809-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24301809G>A , CM000668.2:g.24301809G>A | GRCh38 |
| NC_000006.11:g.24302037G>A , CM000668.1:g.24302037G>A | GRCh37 |
| NC_000006.10:g.24410016G>A | NCBI36 |
| NG_012829.1:g.61244C>T | |
| NG_012829.2:g.86484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.463C>T MANE Select | ENSP00000367715.3:p.Arg155Cys | |
| ENST00000378454.7:c.463C>T | ENSP00000367715.3:p.Arg155Cys | |
| NM_001195610.1:c.463C>T | NP_001182539.1:p.Arg155Cys | |
| NM_016356.4:c.463C>T | NP_057440.2:p.Arg155Cys | |
| NM_016356.5:c.463C>T MANE Select | NP_057440.2:p.Arg155Cys | |
| NM_001195610.2:c.463C>T | NP_001182539.1:p.Arg155Cys |