Linked Data
ClinVar Variation Id:
1571396
ClinVar RCV Id:
RCV002217686
dbSNP Id:
rs572958583
ExAC:
9:131380331 G / A
gnomAD v2:
9-131380331-G-A
gnomAD v3:
9-128618052-G-A
gnomAD v4:
9-128618052-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128618052G>A , CM000671.2:g.128618052G>A | GRCh38 |
| NC_000009.11:g.131380331G>A , CM000671.1:g.131380331G>A | GRCh37 |
| NC_000009.10:g.130420152G>A | NCBI36 |
| NG_027748.1:g.70495G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627441.3:c.5580G>A | ENSP00000486547.2:p.Gln1860= | |
| ENST00000630866.2:c.5544G>A | ENSP00000487444.1:p.Gln1848= | |
| ENST00000704202.1:c.5544G>A | ENSP00000515764.1:p.Gln1848= | |
| ENST00000704203.1:c.5580G>A | ENSP00000515765.1:p.Gln1860= | |
| ENST00000704204.1:c.5007G>A | ENSP00000515766.1:p.Gln1669= | |
| ENST00000704206.1:c.3167G>A | ||
| ENST00000704207.1:c.1154G>A | ||
| ENST00000706487.1:c.5544G>A | ENSP00000516412.1:p.Gln1848= | |
| ENST00000372739.7:c.5544G>A MANE Select | ENSP00000361824.4:p.Gln1848= | |
| ENST00000637434.1:n.772G>A | ||
| ENST00000358161.9:c.5469G>A | ENSP00000350882.6:p.Gln1823= | |
| ENST00000372731.8:c.5529G>A | ENSP00000361816.4:p.Gln1843= | |
| ENST00000372739.5:c.5544G>A | ENSP00000361824.3:p.Gln1848= | |
| ENST00000630804.2:c.5484G>A | ENSP00000486308.1:p.Gln1828= | |
| ENST00000630866.1:c.5544G>A | ENSP00000487444.1:p.Gln1848= | |
| NM_001130438.2:c.5544G>A | NP_001123910.1:p.Gln1848= | |
| NM_001195532.1:c.5469G>A | NP_001182461.1:p.Gln1823= | |
| NM_003127.3:c.5529G>A | NP_003118.2:p.Gln1843= | |
| XM_006717245.1:c.5580G>A | XP_006717308.1:p.Gln1860= | |
| XM_006717246.1:c.5565G>A | XP_006717309.1:p.Gln1855= | |
| XM_006717247.1:c.5520G>A | XP_006717310.1:p.Gln1840= | |
| XM_006717248.1:c.5580G>A | XP_006717311.1:p.Gln1860= | |
| XM_006717249.1:c.5565G>A | XP_006717312.1:p.Gln1855= | |
| XM_006717250.1:c.5580G>A | XP_006717313.1:p.Gln1860= | |
| XM_006717251.1:c.5484G>A | XP_006717314.1:p.Gln1828= | |
| XM_006717252.1:c.5520G>A | XP_006717315.1:p.Gln1840= | |
| XM_006717253.1:c.5505G>A | XP_006717316.1:p.Gln1835= | |
| XM_006717254.1:c.5544G>A | XP_006717317.1:p.Gln1848= | |
| NM_001363759.1:c.5544G>A | NP_001350688.1:p.Gln1848= | |
| NM_001363765.1:c.5484G>A | NP_001350694.1:p.Gln1828= | |
| XM_006717247.2:c.5520G>A | XP_006717310.1:p.Gln1840= | |
| XM_006717248.2:c.5580G>A | XP_006717311.1:p.Gln1860= | |
| XM_006717251.2:c.5484G>A | XP_006717314.1:p.Gln1828= | |
| XM_006717252.3:c.5520G>A | XP_006717315.1:p.Gln1840= | |
| XM_017015059.1:c.5544G>A | XP_016870548.1:p.Gln1848= | |
| XM_017015060.1:c.5520G>A | XP_016870549.1:p.Gln1840= | |
| NM_001130438.3:c.5544G>A MANE Select | NP_001123910.1:p.Gln1848= | |
| NM_001195532.2:c.5469G>A | NP_001182461.1:p.Gln1823= | |
| NM_001363759.2:c.5544G>A | NP_001350688.1:p.Gln1848= | |
| NM_001363765.2:c.5484G>A | NP_001350694.1:p.Gln1828= | |
| NM_001375310.1:c.5544G>A | NP_001362239.1:p.Gln1848= | |
| NM_001375311.2:c.5544G>A | NP_001362240.1:p.Gln1848= | |
| NM_001375312.2:c.5580G>A | NP_001362241.2:p.Gln1860= | |
| NM_001375313.1:c.5544G>A | NP_001362242.1:p.Gln1848= | |
| NM_001375314.2:c.5484G>A | NP_001362243.1:p.Gln1828= | |
| NM_001375318.1:c.5580G>A | NP_001362247.1:p.Gln1860= | |
| NM_003127.4:c.5529G>A | NP_003118.2:p.Gln1843= |