Linked Data
ClinVar Variation Id:
435045
dbSNP Id:
rs749976725
ExAC:
9:140705955 G / A
gnomAD v2:
9-140705955-G-A
gnomAD v3:
9-137811503-G-A
gnomAD v4:
9-137811503-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137811503G>A , CM000671.2:g.137811503G>A | GRCh38 |
| NC_000009.11:g.140705955G>A , CM000671.1:g.140705955G>A | GRCh37 |
| NC_000009.10:g.139825776G>A | NCBI36 |
| NG_011776.1:g.197512G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.2755G>A MANE Select | ENSP00000417980.1:p.Val919Met | |
| ENST00000636027.1:c.2641G>A | ENSP00000489961.1:p.Val881Met | |
| ENST00000637161.1:c.2662G>A | ENSP00000490328.1:p.Val888Met | |
| ENST00000637261.1:c.2795G>A | ENSP00000490815.1:n.2795G>A | |
| ENST00000637891.1:c.649G>A | ENSP00000490907.1:p.Val217Met | |
| ENST00000460843.5:c.2755G>A | ENSP00000417980.1:p.Val919Met | |
| ENST00000462942.3:c.1612G>A | ENSP00000436107.1:p.Val538Met | |
| ENST00000486164.5:c.442G>A | ||
| ENST00000488242.2:n.281G>A | ||
| NM_024757.4:c.2755G>A | NP_079033.4:p.Val919Met | |
| XM_005266105.3:c.2746G>A | XP_005266162.1:p.Val916Met | |
| XM_005266110.1:c.2662G>A | XP_005266167.1:p.Val888Met | |
| XM_006717288.2:c.2737G>A | XP_006717351.1:p.Val913Met | |
| XM_011519021.1:c.2764G>A | XP_011517323.1:p.Val922Met | |
| XM_011519022.1:c.2761G>A | XP_011517324.1:p.Val921Met | |
| XM_011519023.1:c.2743G>A | XP_011517325.1:p.Val915Met | |
| XM_011519024.1:c.2686G>A | XP_011517326.1:p.Val896Met | |
| XM_011519025.1:c.2662G>A | XP_011517327.1:p.Val888Met | |
| XM_011519026.1:c.2620G>A | XP_011517328.1:p.Val874Met | |
| XM_011519029.1:c.1186G>A | XP_011517331.1:p.Val396Met | |
| XM_011519030.1:c.538G>A | XP_011517332.1:p.Val180Met | |
| XM_011519031.1:c.325G>A | XP_011517333.1:p.Val109Met | |
| XM_011519032.1:c.325G>A | XP_011517334.1:p.Val109Met | |
| XM_011519033.1:c.2599G>A | XP_011517335.1:p.Val867Met | |
| NM_001354263.1:c.2734G>A | NP_001341192.1:p.Val912Met | |
| XM_005266105.5:c.2746G>A | XP_005266162.1:p.Val916Met | |
| XM_011519021.3:c.2764G>A | XP_011517323.1:p.Val922Met | |
| XM_011519022.3:c.2761G>A | XP_011517324.1:p.Val921Met | |
| XM_011519023.3:c.2743G>A | XP_011517325.1:p.Val915Met | |
| XM_011519029.3:c.1186G>A | XP_011517331.1:p.Val396Met | |
| XM_011519030.3:c.538G>A | XP_011517332.1:p.Val180Met | |
| XM_017015134.1:c.2740G>A | XP_016870623.1:p.Val914Met | |
| XM_017015136.2:c.2656G>A | XP_016870625.1:p.Val886Met | |
| XM_017015137.1:c.2641G>A | XP_016870626.1:p.Val881Met | |
| XM_017015138.1:c.2641G>A | XP_016870627.1:p.Val881Met | |
| XM_024447674.1:c.2584G>A | XP_024303442.1:p.Val862Met | |
| XM_024447675.1:c.2518G>A | XP_024303443.1:p.Val840Met | |
| XM_024447676.1:c.1879G>A | XP_024303444.1:p.Val627Met | |
| XM_024447677.1:c.1879G>A | XP_024303445.1:p.Val627Met | |
| XM_024447680.1:c.2497G>A | XP_024303448.1:p.Val833Met | |
| NM_024757.5:c.2755G>A MANE Select | NP_079033.4:p.Val919Met | |
| NM_001354263.2:c.2734G>A | NP_001341192.1:p.Val912Met |