Linked Data
ClinVar Variation Id:
194893
dbSNP Id:
rs144085805
ExAC:
9:140695419 A / G
gnomAD v2:
9-140695419-A-G
gnomAD v3:
9-137800967-A-G
gnomAD v4:
9-137800967-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137800967A>G , CM000671.2:g.137800967A>G | GRCh38 |
| NC_000009.11:g.140695419A>G , CM000671.1:g.140695419A>G | GRCh37 |
| NC_000009.10:g.139815240A>G | NCBI36 |
| NG_011776.1:g.186976A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.2695A>G MANE Select | ENSP00000417980.1:p.Ile899Val | |
| ENST00000636027.1:c.2581A>G | ENSP00000489961.1:p.Ile861Val | |
| ENST00000637161.1:c.2602A>G | ENSP00000490328.1:p.Ile868Val | |
| ENST00000637261.1:c.2735A>G | ENSP00000490815.1:n.2735A>G | |
| ENST00000637891.1:c.589A>G | ENSP00000490907.1:p.Ile197Val | |
| ENST00000637949.1:c.373A>G | ENSP00000489786.1:p.Ile125Val | |
| ENST00000460843.5:c.2695A>G | ENSP00000417980.1:p.Ile899Val | |
| ENST00000462942.3:c.1552A>G | ENSP00000436107.1:p.Ile518Val | |
| ENST00000482340.5:c.265A>G | ENSP00000486748.1:p.Ile89Val | |
| ENST00000486164.5:c.273A>G | ||
| ENST00000488242.2:n.221A>G | ||
| ENST00000493484.5:c.265A>G | ENSP00000486503.1:p.Ile89Val | |
| NM_024757.4:c.2695A>G | NP_079033.4:p.Ile899Val | |
| XM_005266105.3:c.2686A>G | XP_005266162.1:p.Ile896Val | |
| XM_005266110.1:c.2602A>G | XP_005266167.1:p.Ile868Val | |
| XM_006717288.2:c.2677A>G | XP_006717351.1:p.Ile893Val | |
| XM_011519021.1:c.2704A>G | XP_011517323.1:p.Ile902Val | |
| XM_011519022.1:c.2701A>G | XP_011517324.1:p.Ile901Val | |
| XM_011519023.1:c.2683A>G | XP_011517325.1:p.Ile895Val | |
| XM_011519024.1:c.2626A>G | XP_011517326.1:p.Ile876Val | |
| XM_011519025.1:c.2602A>G | XP_011517327.1:p.Ile868Val | |
| XM_011519026.1:c.2560A>G | XP_011517328.1:p.Ile854Val | |
| XM_011519027.1:c.2704A>G | XP_011517329.1:p.Ile902Val | |
| XM_011519029.1:c.1126A>G | XP_011517331.1:p.Ile376Val | |
| XM_011519030.1:c.478A>G | XP_011517332.1:p.Ile160Val | |
| XM_011519031.1:c.265A>G | XP_011517333.1:p.Ile89Val | |
| XM_011519032.1:c.265A>G | XP_011517334.1:p.Ile89Val | |
| XM_011519033.1:c.2539A>G | XP_011517335.1:p.Ile847Val | |
| NM_001354263.1:c.2674A>G | NP_001341192.1:p.Ile892Val | |
| XM_005266105.5:c.2686A>G | XP_005266162.1:p.Ile896Val | |
| XM_011519021.3:c.2704A>G | XP_011517323.1:p.Ile902Val | |
| XM_011519022.3:c.2701A>G | XP_011517324.1:p.Ile901Val | |
| XM_011519023.3:c.2683A>G | XP_011517325.1:p.Ile895Val | |
| XM_011519029.3:c.1126A>G | XP_011517331.1:p.Ile376Val | |
| XM_011519030.3:c.478A>G | XP_011517332.1:p.Ile160Val | |
| XM_017015134.1:c.2680A>G | XP_016870623.1:p.Ile894Val | |
| XM_017015136.2:c.2596A>G | XP_016870625.1:p.Ile866Val | |
| XM_017015137.1:c.2581A>G | XP_016870626.1:p.Ile861Val | |
| XM_017015138.1:c.2581A>G | XP_016870627.1:p.Ile861Val | |
| XM_024447674.1:c.2524A>G | XP_024303442.1:p.Ile842Val | |
| XM_024447675.1:c.2458A>G | XP_024303443.1:p.Ile820Val | |
| XM_024447676.1:c.1819A>G | XP_024303444.1:p.Ile607Val | |
| XM_024447677.1:c.1819A>G | XP_024303445.1:p.Ile607Val | |
| XM_024447678.1:c.2602A>G | XP_024303446.1:p.Ile868Val | |
| XM_024447680.1:c.2437A>G | XP_024303448.1:p.Ile813Val | |
| NM_024757.5:c.2695A>G MANE Select | NP_079033.4:p.Ile899Val | |
| NM_001354263.2:c.2674A>G | NP_001341192.1:p.Ile892Val |