Linked Data
ClinVar Variation Id:
372266
ClinVar RCV Id:
RCV000412585
dbSNP Id:
rs1057517691
PubMed:
PMID:27588451
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78240365G>T , CM000671.2:g.78240365G>T | GRCh38 |
| NC_000009.11:g.80855281G>T , CM000671.1:g.80855281G>T | GRCh37 |
| NC_000009.10:g.80045101G>T | NCBI36 |
| NG_053171.1:g.9304G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376597.9:c.499+1G>T | ENSP00000365782.4:n.499+1G>T | |
| ENST00000376598.3:c.499+1G>T | ENSP00000365783.3:n.499+1G>T | |
| ENST00000642214.1:c.499+1G>T | ENSP00000493662.1:n.499+1G>T | |
| ENST00000642654.1:c.*294+1G>T | ENSP00000495267.1:n.*294+1G>T | |
| ENST00000642669.1:c.499+1G>T | ENSP00000495681.1:n.499+1G>T | |
| ENST00000643273.2:c.499+1G>T MANE Select | ENSP00000496423.2:n.499+1G>T | |
| ENST00000643347.1:c.499+1G>T | ENSP00000494781.1:n.499+1G>T | |
| ENST00000643499.1:c.499+1G>T | ENSP00000495962.1:n.499+1G>T | |
| ENST00000643847.1:c.499+1G>T | ENSP00000494276.1:n.499+1G>T | |
| ENST00000644208.1:c.499+1G>T | ENSP00000493600.1:n.499+1G>T | |
| ENST00000645398.1:c.499+1G>T | ENSP00000493822.1:n.499+1G>T | |
| ENST00000645865.1:c.*221+170G>T | ENSP00000494841.1:n.*221+170G>T | |
| ENST00000646288.1:c.555+1G>T | ENSP00000496131.1:n.555+1G>T | |
| ENST00000647130.1:c.534+1G>T | ENSP00000496303.1:n.534+1G>T | |
| ENST00000647199.1:c.499+1G>T | ENSP00000496384.1:n.499+1G>T | |
| ENST00000277082.9:c.499+1G>T | ENSP00000277082.5:n.499+1G>T | |
| ENST00000376597.8:c.499+1G>T | ENSP00000365782.4:n.499+1G>T | |
| ENST00000376598.2:c.499+1G>T | ENSP00000365783.2:n.499+1G>T | |
| ENST00000415759.6:c.499+1G>T | ENSP00000399286.2:n.499+1G>T | |
| ENST00000424347.6:c.499+1G>T | ENSP00000411284.2:n.499+1G>T | |
| ENST00000476652.2:n.463+3762G>T | ||
| ENST00000536374.1:n.825+1G>T | ||
| NM_001098802.1:c.499+1G>T | NP_001092272.1:n.499+1G>T | |
| NM_032171.1:c.499+1G>T | NP_115547.1:n.499+1G>T | |
| XM_005252263.3:c.499+1G>T | XP_005252320.1:n.499+1G>T | |
| XM_005252265.1:c.499+1G>T | XP_005252322.1:n.499+1G>T | |
| XM_005252266.3:c.238+1G>T | XP_005252323.1:n.238+1G>T | |
| NM_001098802.2:c.499+1G>T | NP_001092272.1:n.499+1G>T | |
| NM_001330691.2:c.499+1G>T | NP_001317620.1:n.499+1G>T | |
| NM_001330693.2:c.499+1G>T | NP_001317622.1:n.499+1G>T | |
| NM_001330694.1:c.499+1G>T | NP_001317623.1:n.499+1G>T | |
| NM_001349838.1:c.499+1G>T | NP_001336767.1:n.499+1G>T | |
| NM_001349839.1:c.499+1G>T | NP_001336768.1:n.499+1G>T | |
| NM_001349840.1:c.499+1G>T | NP_001336769.1:n.499+1G>T | |
| NM_032171.2:c.499+1G>T | NP_115547.1:n.499+1G>T | |
| XM_005252266.4:c.238+1G>T | XP_005252323.1:n.238+1G>T | |
| XM_017015196.1:c.238+1G>T | XP_016870685.1:n.238+1G>T | |
| NM_001098802.3:c.499+1G>T | NP_001092272.1:n.499+1G>T | |
| NM_001330691.3:c.499+1G>T MANE Select | NP_001317620.1:n.499+1G>T | |
| NM_001330693.3:c.499+1G>T | NP_001317622.1:n.499+1G>T | |
| NM_001330694.2:c.499+1G>T | NP_001317623.1:n.499+1G>T | |
| NM_001349838.2:c.499+1G>T | NP_001336767.1:n.499+1G>T | |
| NM_001349839.2:c.499+1G>T | NP_001336768.1:n.499+1G>T | |
| NM_001349840.2:c.499+1G>T | NP_001336769.1:n.499+1G>T | |
| NM_032171.3:c.499+1G>T | NP_115547.1:n.499+1G>T |