Linked Data
dbSNP Id:
rs367823672
ExAC:
9:116151325 C / G
gnomAD v2:
9-116151325-C-G
gnomAD v3:
9-113389045-C-G
gnomAD v4:
9-113389045-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113389045C>G , CM000671.2:g.113389045C>G | GRCh38 |
| NC_000009.11:g.116151325C>G , CM000671.1:g.116151325C>G | GRCh37 |
| NC_000009.10:g.115191146C>G | NCBI36 |
| NG_008716.1:g.17294G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409155.8:c.863G>C MANE Select | ENSP00000386284.3:p.Gly288Ala | |
| ENST00000409155.7:c.863G>C | ENSP00000386284.3:p.Gly288Ala | |
| ENST00000482847.5:n.1136G>C | ||
| NM_000031.5:c.863G>C | NP_000022.3:p.Gly288Ala | |
| XM_005251799.1:c.950G>C | XP_005251856.1:p.Gly317Ala | |
| XM_011518363.1:c.989G>C | XP_011516665.1:p.Gly330Ala | |
| XM_011518364.1:c.890G>C | XP_011516666.1:p.Gly297Ala | |
| NM_001003945.2:c.950G>C | NP_001003945.1:p.Gly317Ala | |
| NM_001317745.1:c.839G>C | NP_001304674.1:p.Gly280Ala | |
| XM_011518364.2:c.890G>C | XP_011516666.1:p.Gly297Ala | |
| XM_024447449.1:c.950G>C | XP_024303217.1:p.Gly317Ala | |
| NM_000031.6:c.863G>C MANE Select | NP_000022.3:p.Gly288Ala | |
| NM_001003945.3:c.950G>C | NP_001003945.1:p.Gly317Ala | |
| NM_001317745.2:c.839G>C | NP_001304674.1:p.Gly280Ala |