Linked Data
ClinVar Variation Id:
45967
dbSNP Id:
rs111033487
ExAC:
10:73538008 C / A
gnomAD v2:
10-73538008-C-A
gnomAD v3:
10-71778251-C-A
gnomAD v4:
10-71778251-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71778251C>A , CM000672.2:g.71778251C>A | GRCh38 |
| NC_000010.10:g.73538008C>A , CM000672.1:g.73538008C>A | GRCh37 |
| NC_000010.9:g.73208014C>A | NCBI36 |
| NG_008835.1:g.386305C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5130C>A MANE Select | ENSP00000224721.9:p.Ile1710= | |
| ENST00000224721.10:c.5145C>A | ENSP00000224721.8:p.Ile1715= | |
| ENST00000622827.4:c.5130C>A | ENSP00000483211.1:p.Ile1710= | |
| NM_022124.5:c.5130C>A | NP_071407.4:p.Ile1710= | |
| XM_006717940.2:c.5325C>A | XP_006718003.1:p.Ile1775= | |
| XM_006717942.2:c.5259C>A | XP_006718005.1:p.Ile1753= | |
| XM_011540039.1:c.5322C>A | XP_011538341.1:p.Ile1774= | |
| XM_011540040.1:c.5319C>A | XP_011538342.1:p.Ile1773= | |
| XM_011540041.1:c.5265C>A | XP_011538343.1:p.Ile1755= | |
| XM_011540042.1:c.5325C>A | XP_011538344.1:p.Ile1775= | |
| XM_011540043.1:c.5325C>A | XP_011538345.1:p.Ile1775= | |
| XM_011540044.1:c.5190C>A | XP_011538346.1:p.Ile1730= | |
| XM_011540045.1:c.5325C>A | XP_011538347.1:p.Ile1775= | |
| XM_011540046.1:c.4785C>A | XP_011538348.1:p.Ile1595= | |
| XM_011540047.1:c.4143C>A | XP_011538349.1:p.Ile1381= | |
| XM_011540048.1:c.5325C>A | XP_011538350.1:p.Ile1775= | |
| XM_011540049.1:c.5325C>A | XP_011538351.1:p.Ile1775= | |
| XM_011540050.1:c.5325C>A | XP_011538352.1:p.Ile1775= | |
| XM_011540051.1:c.5325C>A | XP_011538353.1:p.Ile1775= | |
| XM_011540052.1:c.1653C>A | XP_011538354.1:p.Ile551= | |
| XM_011540053.1:c.5325C>A | XP_011538355.1:p.Ile1775= | |
| XR_945796.1:n.5568C>A | ||
| NM_022124.6:c.5130C>A MANE Select | NP_071407.4:p.Ile1710= |