Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30912022C>T , CM000669.2:g.30912022C>T | GRCh38 |
| NC_000007.13:g.30951637C>T , CM000669.1:g.30951637C>T | GRCh37 |
| NC_000007.12:g.30918162C>T | NCBI36 |
| NG_007475.2:g.63629C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198098.4:c.113C>T MANE Select | NP_932766.1:p.Pro38Leu |
| ENST00000311813.11:c.113C>T MANE Select | ENSP00000311165.4:p.Pro38Leu |
| NM_001329872.1:c.113C>T | NP_001316801.1:p.Pro38Leu |
| NM_001329872.2:c.113C>T | NP_001316801.1:p.Pro38Leu |
| NM_198098.2:c.113C>T | NP_932766.1:p.Pro38Leu |
| NM_198098.3:c.113C>T | NP_932766.1:p.Pro38Leu |
| ENST00000311813.8:c.113C>T | ENSP00000311165.4:p.Pro38Leu |
| ENST00000509504.2:c.651C>T | |
| ENST00000652696.1:c.113C>T | ENSP00000498672.1:p.Pro38Leu |