Linked Data
ClinVar Variation Id:
1081020
ClinVar RCV Id:
RCV001396859
dbSNP Id:
rs753243622
ExAC:
9:116038971 A / G
gnomAD v2:
9-116038971-A-G
gnomAD v4:
9-113276691-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113276691A>G , CM000671.2:g.113276691A>G | GRCh38 |
| NC_000009.11:g.116038971A>G , CM000671.1:g.116038971A>G | GRCh37 |
| NC_000009.10:g.115078792A>G | NCBI36 |
| NG_034225.1:g.6058A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374198.5:c.171A>G MANE Select | ENSP00000363313.4:p.Ala57= | |
| ENST00000374199.9:c.174A>G | ENSP00000363315.4:p.Ala58= | |
| ENST00000374198.4:c.174A>G | ENSP00000363313.3:p.Ala58= | |
| ENST00000374199.8:c.171A>G | ENSP00000363315.3:p.Ala57= | |
| NM_001244926.1:c.171A>G | NP_001231855.1:p.Ala57= | |
| NM_004697.4:c.174A>G | NP_004688.2:p.Ala58= | |
| XM_011519181.1:c.174A>G | XP_011517483.1:p.Ala58= | |
| NM_001322266.1:c.-595A>G | NP_001309195.1:n.-595A>G | |
| NM_001322267.1:c.-595A>G | NP_001309196.1:n.-595A>G | |
| NR_136265.1:n.284A>G | ||
| NR_136266.1:n.281A>G | ||
| NM_001244926.2:c.171A>G MANE Select | NP_001231855.1:p.Ala57= | |
| NM_001322266.2:c.-595A>G | NP_001309195.1:n.-595A>G | |
| NM_001322267.2:c.-595A>G | NP_001309196.1:n.-595A>G | |
| NM_004697.5:c.174A>G | NP_004688.2:p.Ala58= | |
| NR_136265.2:n.260A>G | ||
| NR_136266.2:n.257A>G |