Linked Data
ClinVar Variation Id:
1283819
ClinVar RCV Id:
RCV001691859
dbSNP Id:
rs2075173
gnomAD v2:
14-81554617-A-G
gnomAD v3:
14-81088273-A-G
gnomAD v4:
14-81088273-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.81088273A>G , CM000676.2:g.81088273A>G | GRCh38 |
| NC_000014.8:g.81554617A>G , CM000676.1:g.81554617A>G | GRCh37 |
| NC_000014.7:g.80624370A>G | NCBI36 |
| NG_009206.1:g.137749A>G , LRG_523:g.137749A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298171.7:c.392+245A>G MANE Select | ENSP00000298171.2:n.392+245A>G | |
| ENST00000636454.1:n.310+245A>G | ||
| ENST00000298171.6:c.392+245A>G | ENSP00000298171.2:n.392+245A>G | |
| ENST00000342443.10:c.392+245A>G | ENSP00000340113.6:n.392+245A>G | |
| ENST00000541158.6:c.392+245A>G | ENSP00000441235.2:n.392+245A>G | |
| ENST00000554263.5:c.392+245A>G | ENSP00000451202.1:n.392+245A>G | |
| ENST00000554435.1:c.392+245A>G | ENSP00000450549.1:n.392+245A>G | |
| ENST00000555326.5:c.*102+245A>G | ENSP00000451092.1:n.*102+245A>G | |
| NM_000369.2:c.392+245A>G , LRG_523t1:c.392+245A>G | NP_000360.2:n.392+245A>G | |
| NM_001018036.2:c.392+245A>G | NP_001018046.1:n.392+245A>G | |
| NM_001142626.2:c.392+245A>G | NP_001136098.1:n.392+245A>G | |
| XM_005268037.3:c.392+245A>G | XP_005268094.1:n.392+245A>G | |
| XM_005268039.1:c.392+245A>G | XP_005268096.1:n.392+245A>G | |
| XM_006720245.1:c.392+245A>G | XP_006720308.1:n.392+245A>G | |
| XM_011537119.1:c.113+245A>G | XP_011535421.1:n.113+245A>G | |
| XR_245790.3:n.2481-621T>C | ||
| XR_944075.1:n.1354-621T>C | ||
| XR_944076.1:n.1256-621T>C | ||
| XR_944077.1:n.1260-621T>C | ||
| XR_944078.1:n.1260-621T>C | ||
| XM_005268037.4:c.392+245A>G | XP_005268094.1:n.392+245A>G | |
| XM_011537119.2:c.113+245A>G | XP_011535421.1:n.113+245A>G | |
| XR_001751018.2:n.794-621T>C | ||
| XR_001751019.2:n.700-621T>C | ||
| XR_001751020.2:n.700-621T>C | ||
| XR_001751021.1:n.3242-621T>C | ||
| XR_001751022.1:n.3148-621T>C | ||
| XR_001751023.1:n.3281-621T>C | ||
| XR_001751024.2:n.794-621T>C | ||
| XR_944075.3:n.1418-621T>C | ||
| NM_000369.4:c.392+245A>G | NP_000360.2:n.392+245A>G | |
| NM_001018036.3:c.392+245A>G | NP_001018046.1:n.392+245A>G | |
| NM_001142626.3:c.392+245A>G | NP_001136098.1:n.392+245A>G | |
| NM_000369.5:c.392+245A>G MANE Select | NP_000360.2:n.392+245A>G |