Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147562179C= , CM000669.2:g.147562179C= | GRCh38 |
| NC_000007.13:g.147259271C= , CM000669.1:g.147259271C= | GRCh37 |
| NC_000007.12:g.146890204C= | NCBI36 |
| NG_007092.2:g.1450819C= | |
| NG_007092.3:g.1451179C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.1819C= MANE Select | NP_054860.1:p.Gln607= |
| ENST00000361727.8:c.1819C= MANE Select | ENSP00000354778.3:p.Gln607= |
| NM_014141.5:c.1819C= | NP_054860.1:p.Gln607= |
| ENST00000361727.7:c.1819C= | ENSP00000354778.3:p.Gln607= |
| ENST00000636870.1:n.1681C= | |
| ENST00000637825.1:n.1302C= | |
| ENST00000638117.1:n.1722C= | |
| XM_006715919.1:c.307C= | XP_006715982.1:p.Gln103= |
| XM_017011950.2:c.1819C= | XP_016867439.1:p.Gln607= |