Linked Data
ClinVar Variation Id:
204126
dbSNP Id:
rs180177264
ExAC:
2:241814602 T / C
gnomAD v2:
2-241814602-T-C
gnomAD v4:
2-240875185-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875185T>C , CM000664.2:g.240875185T>C | GRCh38 |
| NC_000002.11:g.241814602T>C , CM000664.1:g.241814602T>C | GRCh37 |
| NC_000002.10:g.241463275T>C | NCBI36 |
| NG_008005.1:g.11441T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.757T>C MANE Select | ENSP00000302620.3:p.Cys253Arg | |
| ENST00000307503.3:c.757T>C | ENSP00000302620.3:p.Cys253Arg | |
| ENST00000476698.1:n.409T>C | ||
| NM_000030.2:c.757T>C | NP_000021.1:p.Cys253Arg | |
| NM_000030.3:c.757T>C MANE Select | NP_000021.1:p.Cys253Arg |