Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149569659T>G , CM000664.2:g.149569659T>G | GRCh38 |
| NC_000002.11:g.150426173T>G , CM000664.1:g.150426173T>G | GRCh37 |
| NC_000002.10:g.150134419T>G | NCBI36 |
| NG_009189.1:g.23158A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.*315A>C MANE Select | ENSP00000301920.5:n.*315A>C | |
| ENST00000303319.9:c.*315A>C | ENSP00000301920.5:n.*315A>C | |
| ENST00000428879.5:c.*315A>C | ENSP00000389060.1:n.*315A>C | |
| NM_015702.2:c.*315A>C | NP_056517.1:n.*315A>C | |
| NM_015702.3:c.*315A>C MANE Select | NP_056517.1:n.*315A>C |