Linked Data
ClinVar Variation Id:
1593588
ClinVar RCV Id:
RCV002112992
dbSNP Id:
rs1054939979
gnomAD v2:
9-131366586-A-T
gnomAD v4:
9-128604307-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128604307A>T , CM000671.2:g.128604307A>T | GRCh38 |
| NC_000009.11:g.131366586A>T , CM000671.1:g.131366586A>T | GRCh37 |
| NC_000009.10:g.130406407A>T | NCBI36 |
| NG_027748.1:g.56750A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627441.3:c.3664-19A>T | ENSP00000486547.2:n.3664-19A>T | |
| ENST00000630866.2:c.3628-19A>T | ENSP00000487444.1:n.3628-19A>T | |
| ENST00000704202.1:c.3628-19A>T | ENSP00000515764.1:n.3628-19A>T | |
| ENST00000704203.1:c.3664-19A>T | ENSP00000515765.1:n.3664-19A>T | |
| ENST00000704204.1:c.3091-19A>T | ENSP00000515766.1:n.3091-19A>T | |
| ENST00000704206.1:c.1251-19A>T | ||
| ENST00000706487.1:c.3628-19A>T | ENSP00000516412.1:n.3628-19A>T | |
| ENST00000372739.7:c.3628-19A>T MANE Select | ENSP00000361824.4:n.3628-19A>T | |
| ENST00000635806.1:c.184-19A>T | ||
| ENST00000635853.1:n.4763-19A>T | ||
| ENST00000358161.9:c.3568-19A>T | ENSP00000350882.6:n.3568-19A>T | |
| ENST00000372731.8:c.3628-19A>T | ENSP00000361816.4:n.3628-19A>T | |
| ENST00000372739.5:c.3628-19A>T | ENSP00000361824.3:n.3628-19A>T | |
| ENST00000461855.3:n.201-19A>T | ||
| ENST00000630804.2:c.3568-19A>T | ENSP00000486308.1:n.3568-19A>T | |
| ENST00000630866.1:c.3628-19A>T | ENSP00000487444.1:n.3628-19A>T | |
| NM_001130438.2:c.3628-19A>T | NP_001123910.1:n.3628-19A>T | |
| NM_001195532.1:c.3568-19A>T | NP_001182461.1:n.3568-19A>T | |
| NM_003127.3:c.3628-19A>T | NP_003118.2:n.3628-19A>T | |
| XM_006717245.1:c.3664-19A>T | XP_006717308.1:n.3664-19A>T | |
| XM_006717246.1:c.3664-19A>T | XP_006717309.1:n.3664-19A>T | |
| XM_006717247.1:c.3604-19A>T | XP_006717310.1:n.3604-19A>T | |
| XM_006717248.1:c.3664-19A>T | XP_006717311.1:n.3664-19A>T | |
| XM_006717249.1:c.3664-19A>T | XP_006717312.1:n.3664-19A>T | |
| XM_006717250.1:c.3664-19A>T | XP_006717313.1:n.3664-19A>T | |
| XM_006717251.1:c.3568-19A>T | XP_006717314.1:n.3568-19A>T | |
| XM_006717252.1:c.3604-19A>T | XP_006717315.1:n.3604-19A>T | |
| XM_006717253.1:c.3604-19A>T | XP_006717316.1:n.3604-19A>T | |
| XM_006717254.1:c.3628-19A>T | XP_006717317.1:n.3628-19A>T | |
| NM_001363759.1:c.3628-19A>T | NP_001350688.1:n.3628-19A>T | |
| NM_001363765.1:c.3568-19A>T | NP_001350694.1:n.3568-19A>T | |
| XM_006717247.2:c.3604-19A>T | XP_006717310.1:n.3604-19A>T | |
| XM_006717248.2:c.3664-19A>T | XP_006717311.1:n.3664-19A>T | |
| XM_006717251.2:c.3568-19A>T | XP_006717314.1:n.3568-19A>T | |
| XM_006717252.3:c.3604-19A>T | XP_006717315.1:n.3604-19A>T | |
| XM_017015059.1:c.3628-19A>T | XP_016870548.1:n.3628-19A>T | |
| XM_017015060.1:c.3604-19A>T | XP_016870549.1:n.3604-19A>T | |
| NM_001130438.3:c.3628-19A>T MANE Select | NP_001123910.1:n.3628-19A>T | |
| NM_001195532.2:c.3568-19A>T | NP_001182461.1:n.3568-19A>T | |
| NM_001363759.2:c.3628-19A>T | NP_001350688.1:n.3628-19A>T | |
| NM_001363765.2:c.3568-19A>T | NP_001350694.1:n.3568-19A>T | |
| NM_001375310.1:c.3628-19A>T | NP_001362239.1:n.3628-19A>T | |
| NM_001375311.2:c.3628-19A>T | NP_001362240.1:n.3628-19A>T | |
| NM_001375312.2:c.3664-19A>T | NP_001362241.2:n.3664-19A>T | |
| NM_001375313.1:c.3628-19A>T | NP_001362242.1:n.3628-19A>T | |
| NM_001375314.2:c.3568-19A>T | NP_001362243.1:n.3568-19A>T | |
| NM_001375318.1:c.3664-19A>T | NP_001362247.1:n.3664-19A>T | |
| NM_003127.4:c.3628-19A>T | NP_003118.2:n.3628-19A>T |