Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116792862G= , CM000668.2:g.116792862G= | GRCh38 |
| NC_000006.11:g.117114025G= , CM000668.1:g.117114025G= | GRCh37 |
| NC_000006.10:g.117220718G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310357.8:c.2061C= MANE Select | ENSP00000309493.4:p.Ala687= | |
| ENST00000310357.7:c.2061C= | ENSP00000309493.3:p.Ala687= | |
| ENST00000368549.7:c.1848C= | ENSP00000357537.3:p.Ala616= | |
| ENST00000530250.1:c.1536C= | ENSP00000433465.1:p.Ala512= | |
| NM_001286354.1:c.1536C= | NP_001273283.1:p.Ala512= | |
| NM_001286355.1:c.1848C= | NP_001273284.1:p.Ala616= | |
| NM_148963.3:c.2061C= | NP_683766.2:p.Ala687= | |
| XM_017010475.1:c.1920C= | XP_016865964.1:p.Ala640= | |
| NM_148963.4:c.2061C= MANE Select | NP_683766.2:p.Ala687= |