Linked Data
dbSNP Id:
rs11240594
gnomAD v2:
1-205896235-G-A
gnomAD v3:
1-205927107-G-A
gnomAD v4:
1-205927107-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205927107G>A , CM000663.2:g.205927107G>A | GRCh38 |
| NC_000001.10:g.205896235G>A , CM000663.1:g.205896235G>A | GRCh37 |
| NC_000001.9:g.204162858G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367135.8:c.1293+104C>T MANE Select | ENSP00000356103.3:n.1293+104C>T | |
| ENST00000340781.8:c.1293+104C>T | ENSP00000341682.4:n.1293+104C>T | |
| ENST00000367134.2:c.1293+104C>T | ENSP00000356102.2:n.1293+104C>T | |
| ENST00000367135.7:c.1293+104C>T | ENSP00000356103.3:n.1293+104C>T | |
| ENST00000491127.5:n.677+104C>T | ||
| NM_052934.3:c.1293+104C>T | NP_443166.1:n.1293+104C>T | |
| NM_134325.2:c.1293+104C>T | NP_599152.2:n.1293+104C>T | |
| XM_011509121.1:c.1026+104C>T | XP_011507423.1:n.1026+104C>T | |
| XM_011509122.1:c.801+104C>T | XP_011507424.1:n.801+104C>T | |
| XM_011509123.1:c.1293+104C>T | XP_011507425.1:n.1293+104C>T | |
| XM_011509124.1:c.1293+104C>T | XP_011507426.1:n.1293+104C>T | |
| XR_921737.1:n.1419+104C>T | ||
| XM_011509121.2:c.1026+104C>T | XP_011507423.1:n.1026+104C>T | |
| XM_011509122.2:c.801+104C>T | XP_011507424.1:n.801+104C>T | |
| XM_011509124.2:c.1293+104C>T | XP_011507426.1:n.1293+104C>T | |
| XR_001736957.1:n.1419+104C>T | ||
| NM_052934.4:c.1293+104C>T MANE Select | NP_443166.1:n.1293+104C>T | |
| NM_134325.3:c.1293+104C>T | NP_599152.2:n.1293+104C>T |