Linked Data
dbSNP Id:
rs220599
gnomAD v2:
12-13975298-G-A
gnomAD v3:
12-13822364-G-A
gnomAD v4:
12-13822364-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13822364G>A , CM000674.2:g.13822364G>A | GRCh38 |
| NC_000012.11:g.13975298G>A , CM000674.1:g.13975298G>A | GRCh37 |
| NC_000012.10:g.13866565G>A | NCBI36 |
| NG_031854.1:g.162725C>T | |
| NG_031854.2:g.164649C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609686.4:c.411+43434C>T MANE Select | ENSP00000477455.1:n.411+43434C>T | |
| ENST00000630791.2:c.411+43434C>T | ENSP00000486677.2:n.411+43434C>T | |
| ENST00000609686.3:c.411+43434C>T | ENSP00000477455.1:n.411+43434C>T | |
| NM_000834.3:c.411+43434C>T | NP_000825.2:n.411+43434C>T | |
| XM_011520628.1:c.411+43434C>T | XP_011518930.1:n.411+43434C>T | |
| XM_011520629.1:c.411+43434C>T | XP_011518931.1:n.411+43434C>T | |
| XM_011520630.1:c.411+43434C>T | XP_011518932.1:n.411+43434C>T | |
| NM_000834.4:c.411+43434C>T | NP_000825.2:n.411+43434C>T | |
| XM_011520628.2:c.411+43434C>T | XP_011518930.1:n.411+43434C>T | |
| XM_011520629.2:c.411+43434C>T | XP_011518931.1:n.411+43434C>T | |
| XM_017019219.2:c.411+43434C>T | XP_016874708.1:n.411+43434C>T | |
| NM_000834.5:c.411+43434C>T MANE Select | NP_000825.2:n.411+43434C>T |