Linked Data
dbSNP Id:
rs1278974352
gnomAD v2:
19-51411726-G-A
gnomAD v4:
19-50908470-G-A
COSMIC:
COSM4696639
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50908470G>A , CM000681.2:g.50908470G>A | GRCh38 |
| NC_000019.9:g.51411726G>A , CM000681.1:g.51411726G>A | GRCh37 |
| NC_000019.8:g.56103538G>A | NCBI36 |
| NG_012154.2:g.7269C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324041.6:c.501C>T MANE Select | ENSP00000326159.1:p.Cys167= | |
| ENST00000324041.5:c.501C>T | ENSP00000326159.1:p.Cys167= | |
| ENST00000431178.2:c.328+109C>T | ENSP00000399448.2:n.328+109C>T | |
| ENST00000593885.1:c.212C>T | ENSP00000469769.1:p.Ala71Val | |
| ENST00000596876.1:n.503C>T | ||
| ENST00000598305.5:c.212C>T | ENSP00000469963.1:p.Ala71Val | |
| ENST00000599865.5:n.437C>T | ||
| ENST00000602148.1:c.513C>T | ENSP00000472091.1:n.513C>T | |
| NM_001302961.1:c.216C>T | NP_001289890.1:p.Cys72= | |
| NM_004917.4:c.501C>T | NP_004908.4:p.Cys167= | |
| NR_126566.1:n.490C>T | ||
| XM_005259441.3:c.216C>T | XP_005259498.2:p.Cys72= | |
| XM_011527545.1:c.497C>T | XP_011525847.1:p.Ala166Val | |
| XM_011527546.1:c.475+109C>T | XP_011525848.1:n.475+109C>T | |
| XM_011527547.1:c.354C>T | XP_011525849.1:p.Cys118= | |
| XM_005259441.4:c.216C>T | XP_005259498.2:p.Cys72= | |
| XM_011527545.3:c.497C>T | XP_011525847.1:p.Ala166Val | |
| XM_011527546.2:c.475+109C>T | XP_011525848.1:n.475+109C>T | |
| NM_001302961.2:c.216C>T | NP_001289890.1:p.Cys72= | |
| NR_126566.2:n.490C>T | ||
| NM_004917.5:c.501C>T MANE Select | NP_004908.4:p.Cys167= |