Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954279C>T , CM000670.2:g.19954279C>T | GRCh38 |
| NC_000008.10:g.19811790C>T , CM000670.1:g.19811790C>T | GRCh37 |
| NC_000008.9:g.19856070C>T | NCBI36 |
| NG_008855.1:g.20209C>T | |
| NG_008855.2:g.57563C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000237.3:c.701C>T MANE Select | NP_000228.1:p.Pro234Leu |
| ENST00000650287.1:c.701C>T MANE Select | ENSP00000497642.1:p.Pro234Leu |
| NM_000237.2:c.701C>T | NP_000228.1:p.Pro234Leu |
| ENST00000311322.8:c.701C>T | ENSP00000309757.6:p.Pro234Leu |