Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160139735C>G , CM000663.2:g.160139735C>G | GRCh38 |
| NC_000001.10:g.160109525C>G , CM000663.1:g.160109525C>G | GRCh37 |
| NC_000001.9:g.158376149C>G | NCBI36 |
| NG_008014.1:g.28978C>G , LRG_6:g.28978C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000702.4:c.2936C>G MANE Select | NP_000693.1:p.Pro979Arg |
| ENST00000361216.8:c.2936C>G MANE Select | ENSP00000354490.3:p.Pro979Arg |
| NM_000702.3:c.2936C>G | NP_000693.1:p.Pro979Arg |
| ENST00000361216.7:c.2936C>G | ENSP00000354490.3:p.Pro979Arg |
| ENST00000392233.7:c.2936C>G | ENSP00000376066.3:p.Pro979Arg |
| ENST00000447527.1:c.2017C>G | |
| ENST00000463989.1:n.272C>G |