Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129814662G>A , CM000685.2:g.129814662G>A | GRCh38 |
| NC_000023.10:g.128948638G>A , CM000685.1:g.128948638G>A | GRCh37 |
| NC_000023.9:g.128776319G>A | NCBI36 |
| NG_021387.1:g.34273C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016032.4:c.621C>T MANE Select | NP_057116.2:p.Ala207= |
| ENST00000357166.11:c.621C>T MANE Select | ENSP00000349689.6:p.Ala207= |
| NM_001008222.2:c.621C>T | NP_001008223.1:p.Ala207= |
| NM_001008222.3:c.621C>T | NP_001008223.1:p.Ala207= |
| NM_016032.3:c.621C>T | NP_057116.2:p.Ala207= |
| ENST00000357166.10:c.621C>T | ENSP00000349689.6:p.Ala207= |
| ENST00000371064.7:c.621C>T | ENSP00000360103.3:p.Ala207= |
| ENST00000433917.5:c.367-937C>T | |
| XM_011531347.1:c.621C>T | XP_011529649.1:p.Ala207= |
| XR_001755694.2:n.1015C>T |