Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165068913T>C , CM000665.2:g.165068913T>C | GRCh38 |
| NC_000003.11:g.164786701T>C , CM000665.1:g.164786701T>C | GRCh37 |
| NC_000003.10:g.166269395T>C | NCBI36 |
| NG_017043.1:g.14583A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.374-82A>G MANE Select | ENSP00000264382.3:n.374-82A>G | |
| ENST00000264382.7:c.374-82A>G | ENSP00000264382.3:n.374-82A>G | |
| ENST00000476593.1:c.*249-82A>G | ENSP00000419450.1:n.*249-82A>G | |
| NM_001041.3:c.374-82A>G | NP_001032.2:n.374-82A>G | |
| XM_011513078.1:c.275-82A>G | XP_011511380.1:n.275-82A>G | |
| XM_011513078.2:c.275-82A>G | XP_011511380.1:n.275-82A>G | |
| NM_001041.4:c.374-82A>G MANE Select | NP_001032.2:n.374-82A>G |