Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11974699C>G , CM000663.2:g.11974699C>G | GRCh38 |
| NC_000001.10:g.12034756C>G , CM000663.1:g.12034756C>G | GRCh37 |
| NC_000001.9:g.11957343C>G | NCBI36 |
| NG_008159.1:g.45011C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000302.4:c.2075C>G MANE Select | NP_000293.2:p.Pro692Arg |
| ENST00000196061.5:c.2075C>G MANE Select | ENSP00000196061.4:p.Pro692Arg |
| NM_000302.3:c.2075C>G | NP_000293.2:p.Pro692Arg |
| NM_001316320.1:c.2216C>G | NP_001303249.1:p.Pro739Arg |
| NM_001316320.2:c.2216C>G | NP_001303249.1:p.Pro739Arg |
| ENST00000196061.4:c.2075C>G | ENSP00000196061.4:p.Pro692Arg |
| ENST00000481933.1:n.1502C>G | |
| ENST00000491536.5:n.384-584C>G | |
| XM_011541594.1:c.2156C>G | XP_011539896.1:p.Pro719Arg |
| XM_024447707.1:c.1409C>G | XP_024303475.1:p.Pro470Arg |