Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101229574G>T , CM000665.2:g.101229574G>T | GRCh38 |
| NC_000003.11:g.100948418G>T , CM000665.1:g.100948418G>T | GRCh37 |
| NC_000003.10:g.102431108G>T | NCBI36 |
| NG_028284.1:g.96002C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.3439C>A MANE Select | ENSP00000193391.6:p.Pro1147Thr | |
| ENST00000193391.7:c.3439C>A | ENSP00000193391.6:p.Pro1147Thr | |
| NM_016247.3:c.3439C>A | NP_057331.2:p.Pro1147Thr | |
| XM_011512871.1:c.3145C>A | XP_011511173.1:p.Pro1049Thr | |
| XM_011512872.1:c.3028C>A | XP_011511174.1:p.Pro1010Thr | |
| NM_016247.4:c.3439C>A MANE Select | NP_057331.2:p.Pro1147Thr |