Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993180C>G , CM000678.2:g.30993180C>G | GRCh38 |
| NC_000016.9:g.31004501C>G , CM000678.1:g.31004501C>G | GRCh37 |
| NC_000016.8:g.30912002C>G | NCBI36 |
| NG_041829.1:g.22329G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.736G>C MANE Select | ENSP00000215095.5:p.Ala246Pro | |
| ENST00000565419.2:c.736G>C | ENSP00000455899.1:p.Ala246Pro | |
| ENST00000215095.9:c.736G>C | ENSP00000215095.5:p.Ala246Pro | |
| ENST00000565419.1:c.736G>C | ENSP00000455899.1:p.Ala246Pro | |
| ENST00000569638.5:c.484G>C | ENSP00000457067.1:p.Ala162Pro | |
| NM_052874.4:c.736G>C | NP_443106.1:p.Ala246Pro | |
| XM_017022893.1:c.718G>C | XP_016878382.1:p.Ala240Pro | |
| NM_052874.5:c.736G>C MANE Select | NP_443106.1:p.Ala246Pro |