Linked Data
dbSNP Id:
rs949967340
gnomAD v2:
7-2763453-G-A
gnomAD v3:
7-2723819-G-A
gnomAD v4:
7-2723819-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2723819G>A , CM000669.2:g.2723819G>A | GRCh38 |
| NC_000007.13:g.2763453G>A , CM000669.1:g.2763453G>A | GRCh37 |
| NC_000007.12:g.2729979G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489665.1:n.550+14003G>A | ||
| XM_011515151.1:c.778+14003G>A | XP_011513453.1:n.778+14003G>A | |
| NM_001321766.1:c.948+14003G>A | NP_001308695.1:n.948+14003G>A | |
| XM_011515151.3:c.778+14003G>A | XP_011513453.1:n.778+14003G>A | |
| XM_017011774.2:c.778+14003G>A | XP_016867263.1:n.778+14003G>A | |
| NM_001321766.2:c.948+14003G>A | NP_001308695.1:n.948+14003G>A | |
| NM_001384740.1:c.948+14003G>A | NP_001371669.1:n.948+14003G>A | |
| NM_001384741.1:c.779-7202G>A | NP_001371670.1:n.779-7202G>A | |
| NM_001384742.1:c.779-662G>A | NP_001371671.1:n.779-662G>A |