Linked Data
ClinVar Variation Id:
139301
dbSNP Id:
rs79569204
ExAC:
9:131380310 C / T
gnomAD v2:
9-131380310-C-T
gnomAD v3:
9-128618031-C-T
gnomAD v4:
9-128618031-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128618031C>T , CM000671.2:g.128618031C>T | GRCh38 |
| NC_000009.11:g.131380310C>T , CM000671.1:g.131380310C>T | GRCh37 |
| NC_000009.10:g.130420131C>T | NCBI36 |
| NG_027748.1:g.70474C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627441.3:c.5559C>T | ENSP00000486547.2:p.Ile1853= | |
| ENST00000630866.2:c.5523C>T | ENSP00000487444.1:p.Ile1841= | |
| ENST00000704202.1:c.5523C>T | ENSP00000515764.1:p.Ile1841= | |
| ENST00000704203.1:c.5559C>T | ENSP00000515765.1:p.Ile1853= | |
| ENST00000704204.1:c.4986C>T | ENSP00000515766.1:p.Ile1662= | |
| ENST00000704206.1:c.3146C>T | ||
| ENST00000704207.1:c.1133C>T | ||
| ENST00000706487.1:c.5523C>T | ENSP00000516412.1:p.Ile1841= | |
| ENST00000372739.7:c.5523C>T MANE Select | ENSP00000361824.4:p.Ile1841= | |
| ENST00000637434.1:n.751C>T | ||
| ENST00000358161.9:c.5448C>T | ENSP00000350882.6:p.Ile1816= | |
| ENST00000372731.8:c.5508C>T | ENSP00000361816.4:p.Ile1836= | |
| ENST00000372739.5:c.5523C>T | ENSP00000361824.3:p.Ile1841= | |
| ENST00000630804.2:c.5463C>T | ENSP00000486308.1:p.Ile1821= | |
| ENST00000630866.1:c.5523C>T | ENSP00000487444.1:p.Ile1841= | |
| NM_001130438.2:c.5523C>T | NP_001123910.1:p.Ile1841= | |
| NM_001195532.1:c.5448C>T | NP_001182461.1:p.Ile1816= | |
| NM_003127.3:c.5508C>T | NP_003118.2:p.Ile1836= | |
| XM_006717245.1:c.5559C>T | XP_006717308.1:p.Ile1853= | |
| XM_006717246.1:c.5544C>T | XP_006717309.1:p.Ile1848= | |
| XM_006717247.1:c.5499C>T | XP_006717310.1:p.Ile1833= | |
| XM_006717248.1:c.5559C>T | XP_006717311.1:p.Ile1853= | |
| XM_006717249.1:c.5544C>T | XP_006717312.1:p.Ile1848= | |
| XM_006717250.1:c.5559C>T | XP_006717313.1:p.Ile1853= | |
| XM_006717251.1:c.5463C>T | XP_006717314.1:p.Ile1821= | |
| XM_006717252.1:c.5499C>T | XP_006717315.1:p.Ile1833= | |
| XM_006717253.1:c.5484C>T | XP_006717316.1:p.Ile1828= | |
| XM_006717254.1:c.5523C>T | XP_006717317.1:p.Ile1841= | |
| NM_001363759.1:c.5523C>T | NP_001350688.1:p.Ile1841= | |
| NM_001363765.1:c.5463C>T | NP_001350694.1:p.Ile1821= | |
| XM_006717247.2:c.5499C>T | XP_006717310.1:p.Ile1833= | |
| XM_006717248.2:c.5559C>T | XP_006717311.1:p.Ile1853= | |
| XM_006717251.2:c.5463C>T | XP_006717314.1:p.Ile1821= | |
| XM_006717252.3:c.5499C>T | XP_006717315.1:p.Ile1833= | |
| XM_017015059.1:c.5523C>T | XP_016870548.1:p.Ile1841= | |
| XM_017015060.1:c.5499C>T | XP_016870549.1:p.Ile1833= | |
| NM_001130438.3:c.5523C>T MANE Select | NP_001123910.1:p.Ile1841= | |
| NM_001195532.2:c.5448C>T | NP_001182461.1:p.Ile1816= | |
| NM_001363759.2:c.5523C>T | NP_001350688.1:p.Ile1841= | |
| NM_001363765.2:c.5463C>T | NP_001350694.1:p.Ile1821= | |
| NM_001375310.1:c.5523C>T | NP_001362239.1:p.Ile1841= | |
| NM_001375311.2:c.5523C>T | NP_001362240.1:p.Ile1841= | |
| NM_001375312.2:c.5559C>T | NP_001362241.2:p.Ile1853= | |
| NM_001375313.1:c.5523C>T | NP_001362242.1:p.Ile1841= | |
| NM_001375314.2:c.5463C>T | NP_001362243.1:p.Ile1821= | |
| NM_001375318.1:c.5559C>T | NP_001362247.1:p.Ile1853= | |
| NM_003127.4:c.5508C>T | NP_003118.2:p.Ile1836= |