Linked Data
ClinVar Variation Id:
365340
dbSNP Id:
rs200507089
ExAC:
9:135139873 G / A
gnomAD v2:
9-135139873-G-A
gnomAD v3:
9-132264486-G-A
gnomAD v4:
9-132264486-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132264486G>A , CM000671.2:g.132264486G>A | GRCh38 |
| NC_000009.11:g.135139873G>A , CM000671.1:g.135139873G>A | GRCh37 |
| NC_000009.10:g.134129694G>A | NCBI36 |
| NG_007946.1:g.95500C>T , LRG_268:g.95500C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224140.6:c.7787C>T MANE Select | ENSP00000224140.5:p.Ala2596Val | |
| ENST00000224140.5:c.7787C>T | ENSP00000224140.5:p.Ala2596Val | |
| ENST00000436441.5:c.2600C>T | ENSP00000409143.1:p.Ala867Val | |
| ENST00000477049.1:n.937C>T | ||
| NM_015046.5:c.7787C>T , LRG_268t1:c.7787C>T | NP_055861.3:p.Ala2596Val | |
| XM_005272171.1:c.7874C>T | XP_005272228.1:p.Ala2625Val | |
| XM_005272172.1:c.7874C>T | XP_005272229.1:p.Ala2625Val | |
| XM_005272173.1:c.7874C>T | XP_005272230.1:p.Ala2625Val | |
| XM_011518404.1:c.7874C>T | XP_011516706.1:p.Ala2625Val | |
| XM_011518405.1:c.7874C>T | XP_011516707.1:p.Ala2625Val | |
| XR_929739.1:n.7703C>T | ||
| NM_001351527.1:c.7787C>T | NP_001338456.1:p.Ala2596Val | |
| NM_001351528.1:c.7874C>T | NP_001338457.1:p.Ala2625Val | |
| NM_015046.6:c.7787C>T | NP_055861.3:p.Ala2596Val | |
| XM_005272172.3:c.7874C>T | XP_005272229.1:p.Ala2625Val | |
| XM_005272173.3:c.7874C>T | XP_005272230.1:p.Ala2625Val | |
| XM_011518404.3:c.7874C>T | XP_011516706.1:p.Ala2625Val | |
| XM_011518405.3:c.7874C>T | XP_011516707.1:p.Ala2625Val | |
| XM_017014496.1:c.2327C>T | XP_016869985.1:p.Ala776Val | |
| XR_001746251.1:n.7342C>T | ||
| XR_929739.2:n.7703C>T | ||
| NM_015046.7:c.7787C>T MANE Select | NP_055861.3:p.Ala2596Val | |
| NM_001351528.2:c.7874C>T | NP_001338457.1:p.Ala2625Val | |
| NM_001351527.2:c.7787C>T | NP_001338456.1:p.Ala2596Val |