Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31632527G>C , CM000668.2:g.31632527G>C | GRCh38 |
| NC_000006.11:g.31600304G>C , CM000668.1:g.31600304G>C | GRCh37 |
| NC_000006.10:g.31708283G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004638.4:c.3854G>C MANE Select | NP_004629.3:p.Gly1285Ala |
| ENST00000376033.3:c.3854G>C MANE Select | ENSP00000365201.2:p.Gly1285Ala |
| NM_004638.3:c.3854G>C | NP_004629.3:p.Gly1285Ala |
| NM_080686.2:c.3854G>C | NP_542417.2:p.Gly1285Ala |
| NM_080686.3:c.3854G>C | NP_542417.2:p.Gly1285Ala |
| ENST00000376007.8:c.3854G>C | ENSP00000365175.4:p.Gly1285Ala |
| ENST00000376033.2:c.3854G>C | ENSP00000365201.2:p.Gly1285Ala |
| XM_011514890.1:c.3854G>C | XP_011513192.1:p.Gly1285Ala |
| XM_017011274.1:c.3854G>C | XP_016866763.1:p.Gly1285Ala |