Linked Data
ClinVar Variation Id:
514230
ClinVar RCV Id:
RCV000616597
dbSNP Id:
rs778196740
gnomAD v2:
9-140057278-C-T
gnomAD v4:
9-137162826-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137162826C>T , CM000671.2:g.137162826C>T | GRCh38 |
| NC_000009.11:g.140057278C>T , CM000671.1:g.140057278C>T | GRCh37 |
| NC_000009.10:g.139177099C>T | NCBI36 |
| NG_011507.1:g.28670C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371553.8:c.2077-20C>T | ENSP00000360608.3:n.2077-20C>T | |
| ENST00000371560.5:c.2077-20C>T | ENSP00000360615.3:n.2077-20C>T | |
| ENST00000371561.8:c.2014-20C>T MANE Select | ENSP00000360616.3:n.2014-20C>T | |
| ENST00000675295.1:n.1444-20C>T | ||
| ENST00000350902.9:c.*989-20C>T | ENSP00000316915.9:n.*989-20C>T | |
| ENST00000371546.8:c.2077-20C>T | ENSP00000360601.4:n.2077-20C>T | |
| ENST00000371550.8:c.2014-20C>T | ENSP00000360605.4:n.2014-20C>T | |
| ENST00000371553.7:c.2077-20C>T | ENSP00000360608.3:n.2077-20C>T | |
| ENST00000371555.8:c.2077-20C>T | ENSP00000360610.4:n.2077-20C>T | |
| ENST00000371559.8:c.2014-20C>T | ENSP00000360614.4:n.2014-20C>T | |
| ENST00000371560.4:c.2077-20C>T | ENSP00000360615.3:n.2077-20C>T | |
| ENST00000371561.7:c.2014-20C>T | ENSP00000360616.3:n.2014-20C>T | |
| ENST00000460273.1:n.35-20C>T | ||
| ENST00000471122.5:n.2091-20C>T | ||
| NM_000832.6:c.2014-20C>T | NP_000823.4:n.2014-20C>T | |
| NM_001185090.1:c.2077-20C>T | NP_001172019.1:n.2077-20C>T | |
| NM_001185091.1:c.2077-20C>T | NP_001172020.1:n.2077-20C>T | |
| NM_007327.3:c.2014-20C>T | NP_015566.1:n.2014-20C>T | |
| NM_021569.3:c.2014-20C>T | NP_067544.1:n.2014-20C>T | |
| XM_005266071.2:c.2014-20C>T | XP_005266128.1:n.2014-20C>T | |
| XM_005266072.2:c.2077-20C>T | XP_005266129.1:n.2077-20C>T | |
| XM_005266073.3:c.2077-20C>T | XP_005266130.1:n.2077-20C>T | |
| XM_011518583.1:c.2077-20C>T | XP_011516885.1:n.2077-20C>T | |
| XM_005266071.3:c.2014-20C>T | XP_005266128.1:n.2014-20C>T | |
| XM_005266072.3:c.2077-20C>T | XP_005266129.1:n.2077-20C>T | |
| XM_005266073.4:c.2077-20C>T | XP_005266130.1:n.2077-20C>T | |
| XM_011518583.2:c.2077-20C>T | XP_011516885.1:n.2077-20C>T | |
| NM_007327.4:c.2014-20C>T MANE Select | NP_015566.1:n.2014-20C>T | |
| NM_000832.7:c.2014-20C>T | NP_000823.4:n.2014-20C>T | |
| NM_001185090.2:c.2077-20C>T | NP_001172019.1:n.2077-20C>T | |
| NM_001185091.2:c.2077-20C>T | NP_001172020.1:n.2077-20C>T | |
| NM_021569.4:c.2014-20C>T | NP_067544.1:n.2014-20C>T |