Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115701310T>G , CM000663.2:g.115701310T>G | GRCh38 |
| NC_000001.10:g.116243931T>G , CM000663.1:g.116243931T>G | GRCh37 |
| NC_000001.9:g.116045454T>G | NCBI36 |
| NG_008802.1:g.72496A>C , LRG_404:g.72496A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001232.4:c.1131A>C MANE Select | NP_001223.2:p.Glu377Asp |
| ENST00000261448.6:c.1131A>C MANE Select | ENSP00000261448.5:p.Glu377Asp |
| NM_001232.3:c.1131A>C , LRG_404t1:c.1131A>C | NP_001223.2:p.Glu377Asp |
| ENST00000261448.5:c.1131A>C | ENSP00000261448.5:p.Glu377Asp |
| ENST00000488931.2:c.*503A>C | ENSP00000518226.1:n.*503A>C |