Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.211481164G>A , CM000663.2:g.211481164G>A | GRCh38 |
| NC_000001.10:g.211654506G>A , CM000663.1:g.211654506G>A | GRCh37 |
| NC_000001.9:g.209721129G>A | NCBI36 |
| NG_013042.1:g.16754C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001164688.2:c.252C>T MANE Select | NP_001158160.1:p.Val84= |
| ENST00000680073.1:c.252C>T MANE Select | ENSP00000505312.1:p.Val84= |
| NM_001164688.1:c.252C>T | NP_001158160.1:p.Val84= |
| NM_183059.2:c.252C>T | NP_898882.1:p.Val84= |
| NM_183059.3:c.252C>T | NP_898882.1:p.Val84= |
| ENST00000367002.4:c.252C>T | ENSP00000355969.4:p.Val84= |
| ENST00000367002.5:c.252C>T | ENSP00000355969.4:p.Val84= |
| ENST00000484910.1:n.265-1837C>T | |
| XM_011509479.1:c.252C>T | XP_011507781.1:p.Val84= |
| XM_017001151.1:c.288C>T | XP_016856640.1:p.Val96= |