Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28342216T>C , CM000675.2:g.28342216T>C | GRCh38 |
| NC_000013.10:g.28916353T>C , CM000675.1:g.28916353T>C | GRCh37 |
| NC_000013.9:g.27814353T>C | NCBI36 |
| NG_012003.1:g.157913A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706527.1:n.181-2916A>G | ||
| ENST00000282397.9:c.2356-2916A>G MANE Select | ENSP00000282397.4:n.2356-2916A>G | |
| ENST00000282397.8:c.2356-2916A>G | ENSP00000282397.4:n.2356-2916A>G | |
| ENST00000540678.2:c.-1404-2916A>G | ENSP00000443311.2:n.-1404-2916A>G | |
| NM_002019.4:c.2356-2916A>G MANE Select | NP_002010.2:n.2356-2916A>G | |
| XM_017020485.1:c.2356-2916A>G | XP_016875974.1:n.2356-2916A>G |