Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.109137529G= , CM000671.2:g.109137529G= | GRCh38 |
| NC_000009.11:g.111899809G= , CM000671.1:g.111899809G= | GRCh37 |
| NC_000009.10:g.110939630G= | NCBI36 |
| NG_051235.1:g.34763C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014334.4:c.808C= MANE Select | NP_055149.3:p.Gln270= |
| ENST00000561981.5:c.808C= MANE Select | ENSP00000477141.2:p.Gln270= |
| NM_014334.2:c.961C= | NP_055149.2:p.Gln321= |
| NM_014334.3:c.961C= | NP_055149.2:p.Gln321= |
| ENST00000561981.2:c.961C= | ENSP00000477141.1:p.Gln321= |
| ENST00000644747.1:c.588C= | ENSP00000493964.1:n.588C= |
| XM_011518453.1:c.613C= | XP_011516755.1:p.Gln205= |
| XM_011518454.1:c.613C= | XP_011516756.1:p.Gln205= |
| XM_011518454.3:c.613C= | XP_011516756.1:p.Gln205= |