Linked Data
dbSNP Id:
rs10936845
gnomAD v2:
3-175064809-G-A
gnomAD v3:
3-175347020-G-A
gnomAD v4:
3-175347020-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.175347020G>A , CM000665.2:g.175347020G>A | GRCh38 |
| NC_000003.11:g.175064809G>A , CM000665.1:g.175064809G>A | GRCh37 |
| NC_000003.10:g.176547503G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000454872.6:c.1090+22695G>A MANE Select | ENSP00000404705.1:n.1090+22695G>A | |
| ENST00000414826.1:c.120+90490G>A | ENSP00000396969.1:n.120+90490G>A | |
| ENST00000454872.5:c.1090+22695G>A | ENSP00000404705.1:n.1090+22695G>A | |
| ENST00000473253.5:n.1322+22695G>A | ||
| ENST00000489299.5:n.829+22695G>A | ||
| ENST00000614002.4:c.1054+22695G>A | ENSP00000479989.1:n.1054+22695G>A | |
| NM_207015.2:c.1090+22695G>A | NP_996898.2:n.1090+22695G>A | |
| XM_006713560.2:c.1039+22695G>A | XP_006713623.1:n.1039+22695G>A | |
| XM_011512612.1:c.1120+22695G>A | XP_011510914.1:n.1120+22695G>A | |
| XM_011512613.1:c.1069+22695G>A | XP_011510915.1:n.1069+22695G>A | |
| XM_011512614.1:c.1039+22695G>A | XP_011510916.1:n.1039+22695G>A | |
| XM_011512615.1:c.1120+22695G>A | XP_011510917.1:n.1120+22695G>A | |
| XM_011512616.1:c.571+22695G>A | XP_011510918.1:n.571+22695G>A | |
| XM_011512617.1:c.1120+22695G>A | XP_011510919.1:n.1120+22695G>A | |
| XM_006713560.3:c.1039+22695G>A | XP_006713623.1:n.1039+22695G>A | |
| XM_011512612.3:c.1120+22695G>A | XP_011510914.1:n.1120+22695G>A | |
| XM_011512613.2:c.1069+22695G>A | XP_011510915.1:n.1069+22695G>A | |
| XM_011512615.3:c.1120+22695G>A | XP_011510917.1:n.1120+22695G>A | |
| XM_011512616.3:c.571+22695G>A | XP_011510918.1:n.571+22695G>A | |
| XM_011512617.3:c.1120+22695G>A | XP_011510919.1:n.1120+22695G>A | |
| XM_017006070.2:c.1039+22695G>A | XP_016861559.1:n.1039+22695G>A | |
| XM_017006071.2:c.1039+22695G>A | XP_016861560.1:n.1039+22695G>A | |
| XM_017006072.2:c.1039+22695G>A | XP_016861561.1:n.1039+22695G>A | |
| XM_017006073.2:c.1039+22695G>A | XP_016861562.1:n.1039+22695G>A | |
| XM_017006074.2:c.1039+22695G>A | XP_016861563.1:n.1039+22695G>A | |
| XM_017006075.2:c.1039+22695G>A | XP_016861564.1:n.1039+22695G>A | |
| XM_017006076.2:c.1039+22695G>A | XP_016861565.1:n.1039+22695G>A | |
| XM_017006077.2:c.1039+22695G>A | XP_016861566.1:n.1039+22695G>A | |
| XM_017006078.2:c.1039+22695G>A | XP_016861567.1:n.1039+22695G>A | |
| XM_017006079.2:c.1039+22695G>A | XP_016861568.1:n.1039+22695G>A | |
| XM_017006080.2:c.1039+22695G>A | XP_016861569.1:n.1039+22695G>A | |
| XM_017006081.2:c.1120+22695G>A | XP_016861570.1:n.1120+22695G>A | |
| XM_017006082.2:c.1039+22695G>A | XP_016861571.1:n.1039+22695G>A | |
| XM_017006083.2:c.511+22695G>A | XP_016861572.1:n.511+22695G>A | |
| NM_207015.3:c.1090+22695G>A MANE Select | NP_996898.2:n.1090+22695G>A |