Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160127704G>C , CM000663.2:g.160127704G>C | GRCh38 |
| NC_000001.10:g.160097494G>C , CM000663.1:g.160097494G>C | GRCh37 |
| NC_000001.9:g.158364118G>C | NCBI36 |
| NG_008014.1:g.16947G>C , LRG_6:g.16947G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000702.4:c.901G>C MANE Select | NP_000693.1:p.Gly301Arg |
| ENST00000361216.8:c.901G>C MANE Select | ENSP00000354490.3:p.Gly301Arg |
| NM_000702.3:c.901G>C | NP_000693.1:p.Gly301Arg |
| ENST00000361216.7:c.901G>C | ENSP00000354490.3:p.Gly301Arg |
| ENST00000392233.7:c.901G>C | ENSP00000376066.3:p.Gly301Arg |
| ENST00000447527.1:c.33G>C | |
| ENST00000472488.5:n.1004G>C |