Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144398573G>T , CM000669.2:g.144398573G>T | GRCh38 |
| NC_000007.13:g.144095666G>T , CM000669.1:g.144095666G>T | GRCh37 |
| NC_000007.12:g.143726599G>T | NCBI36 |
| NG_028979.1:g.16655C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080413.3:c.1483C>A MANE Select | NP_001073882.3:p.Pro495Thr |
| ENST00000467773.1:c.1483C>A MANE Select | ENSP00000419457.1:p.Pro495Thr |
| ENST00000483238.5:c.1387C>A | ENSP00000419565.1:p.Pro463Thr |
| ENST00000643164.1:c.580C>A | ENSP00000495343.1:p.Pro194Thr |
| ENST00000645489.1:c.1132C>A | ENSP00000496732.1:p.Pro378Thr |
| XM_011515791.1:c.1132C>A | XP_011514093.1:p.Pro378Thr |
| XM_017011742.2:c.1387C>A | XP_016867231.1:p.Pro463Thr |