Linked Data
dbSNP Id:
rs774121903
ExAC:
19:51411748 C / A
gnomAD v2:
19-51411748-C-A
gnomAD v4:
19-50908492-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50908492C>A , CM000681.2:g.50908492C>A | GRCh38 |
| NC_000019.9:g.51411748C>A , CM000681.1:g.51411748C>A | GRCh37 |
| NC_000019.8:g.56103560C>A | NCBI36 |
| NG_012154.2:g.7247G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324041.6:c.479G>T MANE Select | ENSP00000326159.1:p.Arg160Ile | |
| ENST00000324041.5:c.479G>T | ENSP00000326159.1:p.Arg160Ile | |
| ENST00000431178.2:c.328+87G>T | ENSP00000399448.2:n.328+87G>T | |
| ENST00000593885.1:c.191-1G>T | ENSP00000469769.1:n.191-1G>T | |
| ENST00000596876.1:n.481G>T | ||
| ENST00000598305.5:c.191-1G>T | ENSP00000469963.1:n.191-1G>T | |
| ENST00000599865.5:n.415G>T | ||
| ENST00000602148.1:c.491G>T | ENSP00000472091.1:n.491G>T | |
| NM_001302961.1:c.194G>T | NP_001289890.1:p.Arg65Ile | |
| NM_004917.4:c.479G>T | NP_004908.4:p.Arg160Ile | |
| NR_126566.1:n.469-1G>T | ||
| XM_005259441.3:c.194G>T | XP_005259498.2:p.Arg65Ile | |
| XM_011527545.1:c.476-1G>T | XP_011525847.1:n.476-1G>T | |
| XM_011527546.1:c.475+87G>T | XP_011525848.1:n.475+87G>T | |
| XM_011527547.1:c.332G>T | XP_011525849.1:p.Arg111Ile | |
| XM_005259441.4:c.194G>T | XP_005259498.2:p.Arg65Ile | |
| XM_011527545.3:c.476-1G>T | XP_011525847.1:n.476-1G>T | |
| XM_011527546.2:c.475+87G>T | XP_011525848.1:n.475+87G>T | |
| NM_001302961.2:c.194G>T | NP_001289890.1:p.Arg65Ile | |
| NR_126566.2:n.469-1G>T | ||
| NM_004917.5:c.479G>T MANE Select | NP_004908.4:p.Arg160Ile |