Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31632527G= , CM000668.2:g.31632527G= | GRCh38 |
| NC_000006.11:g.31600304G= , CM000668.1:g.31600304G= | GRCh37 |
| NC_000006.10:g.31708283G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376033.3:c.3854G= MANE Select | ENSP00000365201.2:p.Gly1285= | |
| ENST00000376007.8:c.3854G= | ENSP00000365175.4:p.Gly1285= | |
| ENST00000376033.2:c.3854G= | ENSP00000365201.2:p.Gly1285= | |
| NM_004638.3:c.3854G= | NP_004629.3:p.Gly1285= | |
| NM_080686.2:c.3854G= | NP_542417.2:p.Gly1285= | |
| XM_011514890.1:c.3854G= | XP_011513192.1:p.Gly1285= | |
| XM_017011274.1:c.3854G= | XP_016866763.1:p.Gly1285= | |
| NM_004638.4:c.3854G= MANE Select | NP_004629.3:p.Gly1285= | |
| NM_080686.3:c.3854G= | NP_542417.2:p.Gly1285= |