ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.109137529G>A , CM000671.2:g.109137529G>A | GRCh38 |
| NC_000009.11:g.111899809G>A , CM000671.1:g.111899809G>A | GRCh37 |
| NC_000009.10:g.110939630G>A | NCBI36 |
| NG_051235.1:g.34763C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561981.5:c.808C>T MANE Select | ENSP00000477141.2:p.Gln270Ter | |
| ENST00000644747.1:c.588C>T | ENSP00000493964.1:n.588C>T | |
| ENST00000561981.2:c.961C>T | ENSP00000477141.1:p.Gln321Ter | |
| NM_014334.2:c.961C>T | NP_055149.2:p.Gln321Ter | |
| XM_011518453.1:c.613C>T | XP_011516755.1:p.Gln205Ter | |
| XM_011518454.1:c.613C>T | XP_011516756.1:p.Gln205Ter | |
| NM_014334.3:c.961C>T | NP_055149.2:p.Gln321Ter | |
| XM_011518454.3:c.613C>T | XP_011516756.1:p.Gln205Ter | |
| NM_014334.4:c.808C>T MANE Select | NP_055149.3:p.Gln270Ter |