Linked Data
ClinVar Variation Id:
260201
dbSNP Id:
rs201120508
ExAC:
9:34485238 G / A
gnomAD v2:
9-34485238-G-A
gnomAD v3:
9-34485240-G-A
gnomAD v4:
9-34485240-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34485240G>A , CM000671.2:g.34485240G>A | GRCh38 |
| NC_000009.11:g.34485238G>A , CM000671.1:g.34485238G>A | GRCh37 |
| NC_000009.10:g.34475238G>A | NCBI36 |
| NG_008127.1:g.31428G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242317.9:c.180G>A MANE Select | ENSP00000242317.4:p.Ala60= | |
| ENST00000242317.8:c.180G>A | ENSP00000242317.4:p.Ala60= | |
| ENST00000437363.5:c.147G>A | ENSP00000395396.1:p.Ala49= | |
| ENST00000470982.5:n.179G>A | ||
| ENST00000488369.1:n.195G>A | ||
| ENST00000614641.4:c.180G>A | ENSP00000480538.1:p.Ala60= | |
| NM_001281428.1:c.180G>A | NP_001268357.1:p.Ala60= | |
| NM_012144.3:c.180G>A | NP_036276.1:p.Ala60= | |
| XM_011517846.1:c.180G>A | XP_011516148.1:p.Ala60= | |
| XM_011517847.1:c.180G>A | XP_011516149.1:p.Ala60= | |
| XM_011517848.1:c.180G>A | XP_011516150.1:p.Ala60= | |
| XM_011517849.1:c.180G>A | XP_011516151.1:p.Ala60= | |
| XM_011517850.1:c.180G>A | XP_011516152.1:p.Ala60= | |
| XR_929232.1:n.434G>A | ||
| XR_929233.1:n.434G>A | ||
| XR_929235.1:n.434G>A | ||
| XM_006716758.3:c.-297G>A | XP_006716821.1:n.-297G>A | |
| XM_011517846.2:c.180G>A | XP_011516148.1:p.Ala60= | |
| XM_011517847.3:c.180G>A | XP_011516149.1:p.Ala60= | |
| XM_011517848.2:c.180G>A | XP_011516150.1:p.Ala60= | |
| XM_011517849.2:c.180G>A | XP_011516151.1:p.Ala60= | |
| XM_011517850.3:c.180G>A | XP_011516152.1:p.Ala60= | |
| XM_017014625.2:c.180G>A | XP_016870114.1:p.Ala60= | |
| XR_002956774.1:n.381G>A | ||
| XR_929232.2:n.381G>A | ||
| XR_929233.2:n.381G>A | ||
| NM_012144.4:c.180G>A MANE Select | NP_036276.1:p.Ala60= | |
| NM_001281428.2:c.180G>A | NP_001268357.1:p.Ala60= |