Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54333589G>C , CM000681.2:g.54333589G>C | GRCh38 |
| NC_000019.8:g.59536672G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291759.5:c.1483C>G MANE Select | ENSP00000291759.4:p.Pro495Ala | |
| ENST00000291759.4:c.1483C>G | ENSP00000291759.4:p.Pro495Ala | |
| NM_012276.4:c.1483C>G | NP_036408.4:p.Pro495Ala | |
| NM_012276.5:c.1483C>G MANE Select | NP_036408.4:p.Pro495Ala |