Linked Data
dbSNP Id:
rs750473401
ExAC:
3:142232459 T / C
gnomAD v2:
3-142232459-T-C
gnomAD v4:
3-142513617-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142513617T>C , CM000665.2:g.142513617T>C | GRCh38 |
| NC_000003.11:g.142232459T>C , CM000665.1:g.142232459T>C | GRCh37 |
| NC_000003.10:g.143715149T>C | NCBI36 |
| NG_008951.1:g.70210A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350721.9:c.4525A>G MANE Select | ENSP00000343741.4:p.Lys1509Glu | |
| ENST00000653868.1:n.4554A>G | ||
| ENST00000656590.1:c.3315A>G | ||
| ENST00000661310.1:c.4333A>G | ENSP00000499589.1:p.Lys1445Glu | |
| ENST00000350721.8:c.4525A>G | ENSP00000343741.4:p.Lys1509Glu | |
| NM_001184.3:c.4525A>G | NP_001175.2:p.Lys1509Glu | |
| XM_011512924.1:c.4531A>G | XP_011511226.1:p.Lys1511Glu | |
| XM_011512925.1:c.4339A>G | XP_011511227.1:p.Lys1447Glu | |
| XM_011512926.1:c.4531A>G | XP_011511228.1:p.Lys1511Glu | |
| XM_011512927.1:c.4531A>G | XP_011511229.1:p.Lys1511Glu | |
| XR_924147.1:n.4620A>G | ||
| XR_924148.1:n.4620A>G | ||
| XR_924149.1:n.4620A>G | ||
| NM_001354579.1:c.4333A>G | NP_001341508.1:p.Lys1445Glu | |
| XR_001740179.2:n.4614A>G | ||
| XR_001740180.2:n.4620A>G | ||
| XR_001740181.2:n.4620A>G | ||
| XR_001740182.1:n.4620A>G | ||
| XR_002959543.1:n.4620A>G | ||
| XR_924148.2:n.4620A>G | ||
| NM_001184.4:c.4525A>G MANE Select | NP_001175.2:p.Lys1509Glu | |
| NM_001354579.2:c.4333A>G | NP_001341508.1:p.Lys1445Glu |