Linked Data
ClinVar Variation Id:
1097035
dbSNP Id:
rs191759543
ExAC:
10:73500626 C / A
gnomAD v2:
10-73500626-C-A
gnomAD v3:
10-71740869-C-A
gnomAD v4:
10-71740869-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71740869C>A , CM000672.2:g.71740869C>A | GRCh38 |
| NC_000010.10:g.73500626C>A , CM000672.1:g.73500626C>A | GRCh37 |
| NC_000010.9:g.73170632C>A | NCBI36 |
| NG_008835.1:g.348923C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.4536C>A MANE Select | ENSP00000224721.9:p.Ile1512= | |
| ENST00000224721.10:c.4551C>A | ENSP00000224721.8:p.Ile1517= | |
| ENST00000398792.3:n.1225C>A | ||
| ENST00000622827.4:c.4536C>A | ENSP00000483211.1:p.Ile1512= | |
| NM_022124.5:c.4536C>A | NP_071407.4:p.Ile1512= | |
| XM_006717940.2:c.4731C>A | XP_006718003.1:p.Ile1577= | |
| XM_006717942.2:c.4665C>A | XP_006718005.1:p.Ile1555= | |
| XM_011540039.1:c.4728C>A | XP_011538341.1:p.Ile1576= | |
| XM_011540040.1:c.4725C>A | XP_011538342.1:p.Ile1575= | |
| XM_011540041.1:c.4671C>A | XP_011538343.1:p.Ile1557= | |
| XM_011540042.1:c.4731C>A | XP_011538344.1:p.Ile1577= | |
| XM_011540043.1:c.4731C>A | XP_011538345.1:p.Ile1577= | |
| XM_011540044.1:c.4596C>A | XP_011538346.1:p.Ile1532= | |
| XM_011540045.1:c.4731C>A | XP_011538347.1:p.Ile1577= | |
| XM_011540046.1:c.4191C>A | XP_011538348.1:p.Ile1397= | |
| XM_011540047.1:c.3549C>A | XP_011538349.1:p.Ile1183= | |
| XM_011540048.1:c.4731C>A | XP_011538350.1:p.Ile1577= | |
| XM_011540049.1:c.4731C>A | XP_011538351.1:p.Ile1577= | |
| XM_011540050.1:c.4731C>A | XP_011538352.1:p.Ile1577= | |
| XM_011540051.1:c.4731C>A | XP_011538353.1:p.Ile1577= | |
| XM_011540052.1:c.1059C>A | XP_011538354.1:p.Ile353= | |
| XM_011540053.1:c.4731C>A | XP_011538355.1:p.Ile1577= | |
| XR_945796.1:n.4974C>A | ||
| NM_022124.6:c.4536C>A MANE Select | NP_071407.4:p.Ile1512= |