Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6174633G>A , CM000668.2:g.6174633G>A | GRCh38 |
| NC_000006.11:g.6174866G>A , CM000668.1:g.6174866G>A | GRCh37 |
| NC_000006.10:g.6119865G>A | NCBI36 |
| NG_008107.1:g.151059C>T , LRG_549:g.151059C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000129.4:c.1694C>T MANE Select | NP_000120.2:p.Pro565Leu |
| ENST00000264870.8:c.1694C>T MANE Select | ENSP00000264870.3:p.Pro565Leu |
| NM_000129.3:c.1694C>T , LRG_549t1:c.1694C>T | NP_000120.2:p.Pro565Leu |
| ENST00000264870.7:c.1694C>T | ENSP00000264870.3:p.Pro565Leu |
| XM_006715010.2:c.1694C>T | XP_006715073.1:p.Pro565Leu |
| XM_011514342.1:c.1856C>T | XP_011512644.1:p.Pro619Leu |