Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38690883C>G , CM000675.2:g.38690883C>G | GRCh38 |
| NC_000013.10:g.39265020C>G , CM000675.1:g.39265020C>G | GRCh37 |
| NC_000013.9:g.38163020C>G | NCBI36 |
| NG_008125.2:g.8848C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207361.6:c.3539C>G MANE Select | NP_997244.4:p.Pro1180Arg |
| ENST00000280481.9:c.3539C>G MANE Select | ENSP00000280481.7:p.Pro1180Arg |
| NM_207361.5:c.3539C>G | NP_997244.4:p.Pro1180Arg |
| ENST00000280481.8:c.3539C>G | ENSP00000280481.7:p.Pro1180Arg |
| XM_011535057.1:c.3539C>G | XP_011533359.1:p.Pro1180Arg |
| XM_017020554.1:c.3539C>G | XP_016876043.1:p.Pro1180Arg |
| XR_941571.1:n.3847C>G | |
| XR_941571.2:n.3843C>G |