gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75375083T>A , CM000678.2:g.75375083T>A | GRCh38 |
| NC_000016.9:g.75408981T>A , CM000678.1:g.75408981T>A | GRCh37 |
| NC_000016.8:g.73966482T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283882.4:c.650+20007A>T MANE Select | ENSP00000283882.3:n.650+20007A>T | |
| ENST00000283882.3:c.650+20007A>T | ENSP00000283882.3:n.650+20007A>T | |
| ENST00000569341.1:c.177-2515A>T | ENSP00000462862.1:n.177-2515A>T | |
| ENST00000612761.1:c.31-2515A>T | ||
| NM_006324.2:c.650+20007A>T | NP_006315.1:n.650+20007A>T | |
| XM_011522814.1:c.651-2515A>T | XP_011521116.1:n.651-2515A>T | |
| XR_933180.1:n.810+20007A>T | ||
| XR_933181.1:n.939+16297A>T | ||
| XR_933182.1:n.940-2515A>T | ||
| XR_933183.1:n.922-2515A>T | ||
| XM_011522814.2:c.651-2515A>T | XP_011521116.1:n.651-2515A>T | |
| XR_001751818.2:n.973+1566A>T | ||
| XR_001751819.2:n.900+16297A>T | ||
| XR_933182.3:n.901-2515A>T | ||
| XR_933183.2:n.883-2515A>T | ||
| NM_006324.3:c.650+20007A>T MANE Select | NP_006315.1:n.650+20007A>T |