Linked Data
ClinVar Variation Id:
3060457
ClinVar RCV Id:
RCV003977397
dbSNP Id:
rs56091128
ExAC:
7:101559513 G / A
gnomAD v2:
7-101559513-G-A
gnomAD v3:
7-101916233-G-A
gnomAD v4:
7-101916233-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101916233G>A , CM000669.2:g.101916233G>A | GRCh38 |
| NC_000007.13:g.101559513G>A , CM000669.1:g.101559513G>A | GRCh37 |
| NC_000007.12:g.101346233G>A | NCBI36 |
| NG_029476.2:g.105330G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292535.12:c.141+8G>A MANE Select | ENSP00000292535.7:n.141+8G>A | |
| ENST00000292538.9:c.174+8G>A | ENSP00000292538.4:n.174+8G>A | |
| ENST00000437600.9:c.174+8G>A | ENSP00000414091.5:n.174+8G>A | |
| ENST00000546411.7:c.141+8G>A | ENSP00000450125.3:n.141+8G>A | |
| ENST00000622516.6:c.174+8G>A MANE Plus Clinical | ENSP00000484760.2:n.174+8G>A | |
| ENST00000645010.1:c.174+8G>A | ENSP00000496653.1:n.174+8G>A | |
| ENST00000646649.1:c.174+8G>A | ENSP00000494610.1:n.174+8G>A | |
| ENST00000292535.11:c.141+8G>A | ENSP00000292535.7:n.141+8G>A | |
| ENST00000292538.8:c.174+8G>A | ENSP00000292538.4:n.174+8G>A | |
| ENST00000360264.7:c.174+8G>A | ENSP00000353401.3:n.174+8G>A | |
| ENST00000393824.7:c.63+100140G>A | ENSP00000377410.3:n.63+100140G>A | |
| ENST00000425244.6:c.174+8G>A | ENSP00000409745.2:n.174+8G>A | |
| ENST00000437600.8:c.174+8G>A | ENSP00000414091.4:n.174+8G>A | |
| ENST00000497815.5:n.245+8G>A | ||
| ENST00000546411.6:c.141+8G>A | ENSP00000450125.2:n.141+8G>A | |
| ENST00000547394.6:c.174+8G>A | ENSP00000449371.2:n.174+8G>A | |
| ENST00000549414.6:c.141+8G>A | ENSP00000446630.2:n.141+8G>A | |
| ENST00000550008.6:c.141+8G>A | ENSP00000447373.2:n.141+8G>A | |
| ENST00000556210.1:c.141+8G>A | ENSP00000451558.1:n.141+8G>A | |
| ENST00000558469.5:n.170+8G>A | ||
| ENST00000560541.5:n.446+8G>A | ||
| ENST00000607092.1:n.205G>A | ||
| ENST00000622516.4:c.174+8G>A | ENSP00000484760.1:n.174+8G>A | |
| NM_001202543.1:c.174+8G>A | NP_001189472.1:n.174+8G>A | |
| NM_001202544.2:c.174+8G>A | NP_001189473.1:n.174+8G>A | |
| NM_001202545.2:c.174+8G>A | NP_001189474.1:n.174+8G>A | |
| NM_001202546.2:c.63+100140G>A | NP_001189475.1:n.63+100140G>A | |
| NM_001913.4:c.174+8G>A | NP_001904.2:n.174+8G>A | |
| NM_181500.3:c.174+8G>A | NP_852477.1:n.174+8G>A | |
| NM_181552.3:c.141+8G>A | NP_853530.2:n.141+8G>A | |
| XM_005250150.1:c.441+8G>A | XP_005250207.1:n.441+8G>A | |
| XM_005250151.1:c.441+8G>A | XP_005250208.1:n.441+8G>A | |
| XM_005250154.3:c.441+8G>A | XP_005250211.1:n.441+8G>A | |
| XM_006715854.1:c.441+8G>A | XP_006715917.1:n.441+8G>A | |
| XM_006715855.1:c.441+8G>A | XP_006715918.1:n.441+8G>A | |
| XM_006715856.2:c.174+8G>A | XP_006715919.1:n.174+8G>A | |
| XM_011515823.1:c.441+8G>A | XP_011514125.1:n.441+8G>A | |
| XM_011515824.1:c.441+8G>A | XP_011514126.1:n.441+8G>A | |
| XM_011515825.1:c.174+8G>A | XP_011514127.1:n.174+8G>A | |
| XM_005250150.3:c.441+8G>A | XP_005250207.1:n.441+8G>A | |
| XM_006715854.2:c.441+8G>A | XP_006715917.1:n.441+8G>A | |
| XM_011515825.2:c.174+8G>A | XP_011514127.1:n.174+8G>A | |
| XM_017011760.2:c.174+8G>A | XP_016867249.1:n.174+8G>A | |
| XM_024446668.1:c.441+8G>A | XP_024302436.1:n.441+8G>A | |
| NM_181552.4:c.141+8G>A MANE Select | NP_853530.2:n.141+8G>A | |
| NM_001202543.2:c.174+8G>A | NP_001189472.1:n.174+8G>A | |
| NM_001202544.3:c.174+8G>A | NP_001189473.1:n.174+8G>A | |
| NM_001202545.3:c.174+8G>A | NP_001189474.1:n.174+8G>A | |
| NM_001202546.3:c.63+100140G>A | NP_001189475.1:n.63+100140G>A | |
| NM_001913.5:c.174+8G>A MANE Plus Clinical | NP_001904.2:n.174+8G>A | |
| NM_181500.4:c.174+8G>A | NP_852477.1:n.174+8G>A |