Linked Data
dbSNP Id:
rs3802241
gnomAD v2:
8-26623384-G-A
gnomAD v3:
8-26765867-G-A
gnomAD v4:
8-26765867-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.26765867G>A , CM000670.2:g.26765867G>A | GRCh38 |
| NC_000008.10:g.26623384G>A , CM000670.1:g.26623384G>A | GRCh37 |
| NC_000008.9:g.26679301G>A | NCBI36 |
| NG_029395.1:g.104539C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354550.4:c.*184C>T | ENSP00000346557.4:n.*184C>T | |
| ENST00000380582.7:c.1269+4414C>T | ENSP00000369956.3:n.1269+4414C>T | |
| ENST00000380586.5:c.1269+4414C>T | ENSP00000369960.1:n.1269+4414C>T | |
| ENST00000519096.5:c.*83-17119C>T | ENSP00000431073.1:n.*83-17119C>T | |
| ENST00000519229.5:c.1269+4414C>T | ENSP00000430793.1:n.1269+4414C>T | |
| ENST00000521711.5:c.*83-9088C>T | ENSP00000430414.1:n.*83-9088C>T | |
| NM_033302.2:c.1269+4414C>T | NP_150645.2:n.1269+4414C>T | |
| NM_033303.3:c.1269+4414C>T | NP_150646.3:n.1269+4414C>T | |
| NM_033304.2:c.*184C>T | NP_150647.2:n.*184C>T | |
| XM_005273414.3:c.*4282C>T | XP_005273471.1:n.*4282C>T | |
| XM_006716292.2:c.1269+4414C>T | XP_006716355.1:n.1269+4414C>T | |
| XM_006716293.2:c.1269+4414C>T | XP_006716356.1:n.1269+4414C>T | |
| NM_001322502.1:c.884-9088C>T | NP_001309431.1:n.884-9088C>T | |
| NM_001322503.1:c.884-17119C>T | NP_001309432.1:n.884-17119C>T | |
| NM_033302.3:c.1269+4414C>T | NP_150645.2:n.1269+4414C>T | |
| NM_033303.4:c.1269+4414C>T | NP_150646.3:n.1269+4414C>T | |
| NM_033304.3:c.*184C>T | NP_150647.2:n.*184C>T | |
| NR_136343.1:n.1744-17119C>T | ||
| XM_006716292.3:c.1269+4414C>T | XP_006716355.1:n.1269+4414C>T | |
| XM_006716293.4:c.1269+4414C>T | XP_006716356.1:n.1269+4414C>T | |
| XM_017013094.1:c.1269+4414C>T | XP_016868583.1:n.1269+4414C>T | |
| XM_017013095.1:c.1269+4414C>T | XP_016868584.1:n.1269+4414C>T |