Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451180A>G , CM000665.2:g.52451180A>G | GRCh38 |
| NC_000003.11:g.52485196A>G , CM000665.1:g.52485196A>G | GRCh37 |
| NC_000003.10:g.52460236A>G | NCBI36 |
| NG_008963.1:g.7862T>C , LRG_378:g.7862T>C | |
| NG_033112.1:g.673A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.*95T>C MANE Select | ENSP00000232975.3:n.*95T>C | |
| ENST00000232975.7:c.*95T>C | ENSP00000232975.3:n.*95T>C | |
| NM_003280.2:c.*95T>C , LRG_378t1:c.*95T>C | NP_003271.1:n.*95T>C | |
| NM_003280.3:c.*95T>C MANE Select | NP_003271.1:n.*95T>C |