Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.127017516C>T , CM000665.2:g.127017516C>T | GRCh38 |
| NC_000003.11:g.126736359C>T , CM000665.1:g.126736359C>T | GRCh37 |
| NC_000003.10:g.128219049C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032242.4:c.3368C>T MANE Select | NP_115618.3:p.Pro1123Leu |
| ENST00000393409.3:c.3368C>T MANE Select | ENSP00000377061.2:p.Pro1123Leu |
| NM_032242.3:c.3368C>T | NP_115618.3:p.Pro1123Leu |
| ENST00000393409.2:c.3368C>T | ENSP00000377061.2:p.Pro1123Leu |
| XM_011512908.1:c.3422C>T | XP_011511210.1:p.Pro1141Leu |
| XM_011512908.2:c.3422C>T | XP_011511210.1:p.Pro1141Leu |
| XM_011512909.1:c.3422C>T | XP_011511211.1:p.Pro1141Leu |