Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96144972G>C , CM000670.2:g.96144972G>C | GRCh38 |
| NC_000008.10:g.97157200G>C , CM000670.1:g.97157200G>C | GRCh37 |
| NC_000008.9:g.97226376G>C | NCBI36 |
| NG_008981.1:g.20821C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001001557.4:c.959C>G MANE Select | NP_001001557.1:p.Pro320Arg |
| ENST00000287020.7:c.959C>G MANE Select | ENSP00000287020.4:p.Pro320Arg |
| NM_001001557.2:c.959C>G | NP_001001557.1:p.Pro320Arg |
| NM_001001557.3:c.959C>G | NP_001001557.1:p.Pro320Arg |
| ENST00000287020.6:c.959C>G | ENSP00000287020.4:p.Pro320Arg |
| ENST00000620978.1:c.793+104C>G | ENSP00000480170.1:n.793+104C>G |
| ENST00000621429.1:c.874+85C>G | ENSP00000483711.1:n.874+85C>G |
| XM_011517030.1:c.560C>G | XP_011515332.1:p.Pro187Arg |