Linked Data
ClinVar Variation Id:
2400500
ClinVar RCV Id:
RCV002734563
dbSNP Id:
rs782419510
ExAC:
7:101755024 G / A
gnomAD v2:
7-101755024-G-A
gnomAD v3:
7-102111744-G-A
gnomAD v4:
7-102111744-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.102111744G>A , CM000669.2:g.102111744G>A | GRCh38 |
| NC_000007.13:g.101755024G>A , CM000669.1:g.101755024G>A | GRCh37 |
| NC_000007.12:g.101541744G>A | NCBI36 |
| NG_029476.2:g.300841G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292535.12:c.577G>A MANE Select | ENSP00000292535.7:p.Ala193Thr | |
| ENST00000292538.9:c.610G>A | ENSP00000292538.4:p.Ala204Thr | |
| ENST00000437600.9:c.610G>A | ENSP00000414091.5:p.Ala204Thr | |
| ENST00000465461.7:c.195G>A | ||
| ENST00000546411.7:c.577G>A | ENSP00000450125.3:p.Ala193Thr | |
| ENST00000622516.6:c.610G>A MANE Plus Clinical | ENSP00000484760.2:p.Ala204Thr | |
| ENST00000645010.1:c.610G>A | ENSP00000496653.1:p.Ala204Thr | |
| ENST00000646649.1:c.610G>A | ENSP00000494610.1:p.Ala204Thr | |
| ENST00000292535.11:c.577G>A | ENSP00000292535.7:p.Ala193Thr | |
| ENST00000292538.8:c.610G>A | ENSP00000292538.4:p.Ala204Thr | |
| ENST00000360264.7:c.610G>A | ENSP00000353401.3:p.Ala204Thr | |
| ENST00000393824.7:c.499G>A | ENSP00000377410.3:p.Ala167Thr | |
| ENST00000425244.6:c.472G>A | ENSP00000409745.2:p.Ala158Thr | |
| ENST00000437600.8:c.610G>A | ENSP00000414091.4:p.Ala204Thr | |
| ENST00000465461.6:n.154G>A | ||
| ENST00000485792.1:n.70G>A | ||
| ENST00000497815.5:n.681G>A | ||
| ENST00000546411.6:c.577G>A | ENSP00000450125.2:p.Ala193Thr | |
| ENST00000547394.6:c.562G>A | ENSP00000449371.2:p.Ala188Thr | |
| ENST00000549414.6:c.577G>A | ENSP00000446630.2:p.Ala193Thr | |
| ENST00000550008.6:c.577G>A | ENSP00000447373.2:p.Ala193Thr | |
| ENST00000556210.1:c.577G>A | ENSP00000451558.1:p.Ala193Thr | |
| ENST00000558836.5:n.716G>A | ||
| ENST00000560541.5:n.882G>A | ||
| ENST00000622516.4:c.610G>A | ENSP00000484760.1:p.Ala204Thr | |
| NM_001202543.1:c.610G>A | NP_001189472.1:p.Ala204Thr | |
| NM_001202544.2:c.562G>A | NP_001189473.1:p.Ala188Thr | |
| NM_001202545.2:c.472G>A | NP_001189474.1:p.Ala158Thr | |
| NM_001202546.2:c.499G>A | NP_001189475.1:p.Ala167Thr | |
| NM_001913.4:c.610G>A | NP_001904.2:p.Ala204Thr | |
| NM_181500.3:c.610G>A | NP_852477.1:p.Ala204Thr | |
| NM_181552.3:c.577G>A | NP_853530.2:p.Ala193Thr | |
| XM_005250150.1:c.877G>A | XP_005250207.1:p.Ala293Thr | |
| XM_005250151.1:c.877G>A | XP_005250208.1:p.Ala293Thr | |
| XM_005250154.3:c.877G>A | XP_005250211.1:p.Ala293Thr | |
| XM_006715854.1:c.877G>A | XP_006715917.1:p.Ala293Thr | |
| XM_006715855.1:c.877G>A | XP_006715918.1:p.Ala293Thr | |
| XM_006715856.2:c.610G>A | XP_006715919.1:p.Ala204Thr | |
| XM_011515823.1:c.877G>A | XP_011514125.1:p.Ala293Thr | |
| XM_011515824.1:c.877G>A | XP_011514126.1:p.Ala293Thr | |
| XM_011515825.1:c.610G>A | XP_011514127.1:p.Ala204Thr | |
| XM_005250150.3:c.877G>A | XP_005250207.1:p.Ala293Thr | |
| XM_006715854.2:c.877G>A | XP_006715917.1:p.Ala293Thr | |
| XM_011515825.2:c.610G>A | XP_011514127.1:p.Ala204Thr | |
| XM_017011760.2:c.610G>A | XP_016867249.1:p.Ala204Thr | |
| XM_024446668.1:c.877G>A | XP_024302436.1:p.Ala293Thr | |
| NM_181552.4:c.577G>A MANE Select | NP_853530.2:p.Ala193Thr | |
| NM_001202543.2:c.610G>A | NP_001189472.1:p.Ala204Thr | |
| NM_001202544.3:c.562G>A | NP_001189473.1:p.Ala188Thr | |
| NM_001202545.3:c.472G>A | NP_001189474.1:p.Ala158Thr | |
| NM_001202546.3:c.499G>A | NP_001189475.1:p.Ala167Thr | |
| NM_001913.5:c.610G>A MANE Plus Clinical | NP_001904.2:p.Ala204Thr | |
| NM_181500.4:c.610G>A | NP_852477.1:p.Ala204Thr |