Linked Data
ClinVar Variation Id:
2518088
ClinVar RCV Id:
RCV003260056
dbSNP Id:
rs1319318632
gnomAD v3:
9-124500556-G-A
gnomAD v4:
9-124500556-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124500556G>A , CM000671.2:g.124500556G>A | GRCh38 |
| NC_000009.11:g.127262835G>A , CM000671.1:g.127262835G>A | GRCh37 |
| NC_000009.10:g.126302656G>A | NCBI36 |
| NG_008176.1:g.11865C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373588.9:c.404C>T MANE Select | ENSP00000362690.4:p.Ala135Val | |
| ENST00000373587.3:c.40-284C>T | ENSP00000362689.3:n.40-284C>T | |
| ENST00000373588.8:c.404C>T | ENSP00000362690.4:p.Ala135Val | |
| ENST00000455734.1:c.404C>T | ENSP00000393245.1:p.Ala135Val | |
| ENST00000620110.4:c.404C>T | ENSP00000483309.1:p.Ala135Val | |
| NM_004959.4:c.404C>T | NP_004950.2:p.Ala135Val | |
| XM_005251871.2:c.404C>T | XP_005251928.1:p.Ala135Val | |
| XM_005251872.3:c.143C>T | XP_005251929.1:p.Ala48Val | |
| XM_011518455.1:c.404C>T | XP_011516757.1:p.Ala135Val | |
| XM_011518456.1:c.404C>T | XP_011516758.1:p.Ala135Val | |
| NM_004959.5:c.404C>T MANE Select | NP_004950.2:p.Ala135Val |