Linked Data
dbSNP Id:
rs757601615
ExAC:
5:1213628 C / T
gnomAD v2:
5-1213628-C-T
gnomAD v3:
5-1213513-C-T
gnomAD v4:
5-1213513-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213513C>T , CM000667.2:g.1213513C>T | GRCh38 |
| NC_000005.9:g.1213628C>T , CM000667.1:g.1213628C>T | GRCh37 |
| NC_000005.8:g.1266628C>T | NCBI36 |
| NG_008282.1:g.16919C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.714C>T MANE Select | ENSP00000305302.10:p.Leu238= | |
| ENST00000304460.10:c.714C>T | ENSP00000305302.10:p.Leu238= | |
| ENST00000515652.5:c.622C>T | ENSP00000425701.1:p.His208Tyr | |
| NM_001003841.2:c.714C>T | NP_001003841.1:p.Leu238= | |
| NM_001003841.3:c.714C>T MANE Select | NP_001003841.1:p.Leu238= |