Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9996111G>A , CM000681.2:g.9996111G>A | GRCh38 |
| NC_000019.9:g.10106787G>A , CM000681.1:g.10106787G>A | GRCh37 |
| NC_000019.8:g.9967787G>A | NCBI36 |
| NG_046943.1:g.19428C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264828.4:c.1488C>T MANE Select | ENSP00000264828.3:p.Pro496= | |
| ENST00000264828.3:c.1488C>T | ENSP00000264828.3:p.Pro496= | |
| NM_015719.3:c.1488C>T | NP_056534.2:p.Pro496= | |
| XM_011528042.1:c.1485C>T | XP_011526344.1:p.Pro495= | |
| XM_011528042.2:c.1485C>T | XP_011526344.1:p.Pro495= | |
| NM_015719.4:c.1488C>T MANE Select | NP_056534.2:p.Pro496= |