Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30720775C>T , CM000678.2:g.30720775C>T | GRCh38 |
| NC_000016.9:g.30732096C>T , CM000678.1:g.30732096C>T | GRCh37 |
| NC_000016.8:g.30639597C>T | NCBI36 |
| NG_032135.1:g.26635C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006662.3:c.3050C>T MANE Select | NP_006653.2:p.Ala1017Val |
| ENST00000262518.9:c.3050C>T MANE Select | ENSP00000262518.4:p.Ala1017Val |
| NM_006662.2:c.3050C>T | NP_006653.2:p.Ala1017Val |
| ENST00000262518.8:c.3050C>T | ENSP00000262518.4:p.Ala1017Val |
| ENST00000380361.7:c.2993C>T | ENSP00000369719.3:p.Ala998Val |
| ENST00000395059.6:c.2459C>T | ENSP00000378499.3:p.Ala820Val |
| ENST00000411466.7:c.3050C>T | ENSP00000405186.3:p.Ala1017Val |
| ENST00000483083.3:c.2149C>T | |
| ENST00000706321.1:c.3050C>T | ENSP00000516346.1:p.Ala1017Val |