Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.211479141G>C , CM000663.2:g.211479141G>C | GRCh38 |
| NC_000001.10:g.211652483G>C , CM000663.1:g.211652483G>C | GRCh37 |
| NC_000001.9:g.209719106G>C | NCBI36 |
| NG_013042.1:g.18777C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001164688.2:c.483C>G MANE Select | NP_001158160.1:p.Pro161= |
| ENST00000680073.1:c.483C>G MANE Select | ENSP00000505312.1:p.Pro161= |
| NM_001164688.1:c.483C>G | NP_001158160.1:p.Pro161= |
| NM_183059.2:c.483C>G | NP_898882.1:p.Pro161= |
| NM_183059.3:c.483C>G | NP_898882.1:p.Pro161= |
| ENST00000367002.4:c.483C>G | ENSP00000355969.4:p.Pro161= |
| ENST00000367002.5:c.483C>G | ENSP00000355969.4:p.Pro161= |
| ENST00000484910.1:n.451C>G | |
| XM_011509479.1:c.483C>G | XP_011507781.1:p.Pro161= |
| XM_017001151.1:c.519C>G | XP_016856640.1:p.Pro173= |