Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119422001C>T , CM000663.2:g.119422001C>T | GRCh38 |
| NC_000001.10:g.119964624C>T , CM000663.1:g.119964624C>T | GRCh37 |
| NC_000001.9:g.119766147C>T | NCBI36 |
| NG_013349.1:g.12071C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000198.4:c.500C>T MANE Select | NP_000189.1:p.Ala167Val |
| ENST00000369416.4:c.500C>T MANE Select | ENSP00000358424.3:p.Ala167Val |
| NM_000198.3:c.500C>T | NP_000189.1:p.Ala167Val |
| NM_001166120.1:c.500C>T | NP_001159592.1:p.Ala167Val |
| NM_001166120.2:c.500C>T | NP_001159592.1:p.Ala167Val |
| ENST00000369416.3:c.500C>T | ENSP00000358424.3:p.Ala167Val |
| ENST00000433745.5:c.500C>T | ENSP00000388292.1:p.Ala167Val |
| ENST00000448448.2:n.444C>T | |
| ENST00000543831.5:c.500C>T | ENSP00000445122.1:p.Ala167Val |