Linked Data
dbSNP Id:
rs530069905
ExAC:
19:51411880 C / A
gnomAD v2:
19-51411880-C-A
gnomAD v3:
19-50908624-C-A
gnomAD v4:
19-50908624-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50908624C>A , CM000681.2:g.50908624C>A | GRCh38 |
| NC_000019.9:g.51411880C>A , CM000681.1:g.51411880C>A | GRCh37 |
| NC_000019.8:g.56103692C>A | NCBI36 |
| NG_012154.2:g.7115G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324041.6:c.430G>T MANE Select | ENSP00000326159.1:p.Ala144Ser | |
| ENST00000324041.5:c.430G>T | ENSP00000326159.1:p.Ala144Ser | |
| ENST00000431178.2:c.283G>T | ENSP00000399448.2:p.Ala95Ser | |
| ENST00000593885.1:c.145G>T | ENSP00000469769.1:p.Ala49Ser | |
| ENST00000596876.1:n.349G>T | ||
| ENST00000598305.5:c.145G>T | ENSP00000469963.1:p.Ala49Ser | |
| ENST00000599865.5:n.283G>T | ||
| ENST00000602148.1:c.442G>T | ENSP00000472091.1:n.442G>T | |
| NM_001302961.1:c.145G>T | NP_001289890.1:p.Ala49Ser | |
| NM_004917.4:c.430G>T | NP_004908.4:p.Ala144Ser | |
| NR_126566.1:n.423G>T | ||
| XM_005259441.3:c.145G>T | XP_005259498.2:p.Ala49Ser | |
| XM_011527545.1:c.430G>T | XP_011525847.1:p.Ala144Ser | |
| XM_011527546.1:c.430G>T | XP_011525848.1:p.Ala144Ser | |
| XM_011527547.1:c.283G>T | XP_011525849.1:p.Ala95Ser | |
| XM_005259441.4:c.145G>T | XP_005259498.2:p.Ala49Ser | |
| XM_011527545.3:c.430G>T | XP_011525847.1:p.Ala144Ser | |
| XM_011527546.2:c.430G>T | XP_011525848.1:p.Ala144Ser | |
| NM_001302961.2:c.145G>T | NP_001289890.1:p.Ala49Ser | |
| NR_126566.2:n.423G>T | ||
| NM_004917.5:c.430G>T MANE Select | NP_004908.4:p.Ala144Ser |