Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14130738A>G , CM000665.2:g.14130738A>G | GRCh38 |
| NC_000003.11:g.14172238A>G , CM000665.1:g.14172238A>G | GRCh37 |
| NC_000003.10:g.14147239A>G | NCBI36 |
| NG_008975.1:g.10799A>G , LRG_435:g.10799A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*193-84A>G | ENSP00000395617.1:n.*193-84A>G | |
| ENST00000306077.5:c.163-84A>G MANE Select | ENSP00000303992.5:n.163-84A>G | |
| ENST00000306077.4:c.163-84A>G | ENSP00000303992.4:n.163-84A>G | |
| ENST00000432444.1:c.*193-84A>G | ENSP00000395617.1:n.*193-84A>G | |
| NM_024334.2:c.163-84A>G , LRG_435t1:c.163-84A>G | NP_077310.1:n.163-84A>G | |
| XM_011534109.1:c.58-84A>G | XP_011532411.1:n.58-84A>G | |
| XM_017007176.2:c.58-84A>G | XP_016862665.1:n.58-84A>G | |
| NM_024334.3:c.163-84A>G MANE Select | NP_077310.1:n.163-84A>G |