Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75005899G= , CM000676.2:g.75005899G= | GRCh38 |
| NC_000014.8:g.75472602G= , CM000676.1:g.75472602G= | GRCh37 |
| NC_000014.7:g.74542355G= | NCBI36 |
| NG_013333.1:g.7991G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.631G= MANE Select | ENSP00000266126.5:p.Gly211= | |
| ENST00000266126.9:c.631G= | ENSP00000266126.5:p.Gly211= | |
| ENST00000553401.5:c.629G= | ENSP00000451681.1:n.629G= | |
| ENST00000556028.5:c.600G= | ENSP00000452311.1:p.Gln200= | |
| NM_014239.3:c.631G= | NP_055054.1:p.Gly211= | |
| NM_014239.4:c.631G= MANE Select | NP_055054.1:p.Gly211= |