Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47839657C>T , CM000681.2:g.47839657C>T | GRCh38 |
| NC_000019.9:g.48342914C>T , CM000681.1:g.48342914C>T | GRCh37 |
| NC_000019.8:g.53034726C>T | NCBI36 |
| NG_008605.1:g.22816C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000554.6:c.590C>T MANE Select | NP_000545.1:p.Pro197Leu |
| ENST00000221996.12:c.590C>T MANE Select | ENSP00000221996.5:p.Pro197Leu |
| NM_000554.4:c.590C>T | NP_000545.1:p.Pro197Leu |
| NM_000554.5:c.590C>T | NP_000545.1:p.Pro197Leu |
| ENST00000221996.11:c.590C>T | ENSP00000221996.5:p.Pro197Leu |
| ENST00000539067.5:c.590C>T | ENSP00000445565.1:p.Pro197Leu |
| ENST00000613299.1:c.*312C>T | ENSP00000478106.1:n.*312C>T |