Linked Data
ClinVar Variation Id:
1219718
ClinVar RCV Id:
RCV001590393
dbSNP Id:
rs12349813
gnomAD v2:
9-137642282-A-G
gnomAD v3:
9-134750436-A-G
gnomAD v4:
9-134750436-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134750436A>G , CM000671.2:g.134750436A>G | GRCh38 |
| NC_000009.11:g.137642282A>G , CM000671.1:g.137642282A>G | GRCh37 |
| NC_000009.10:g.136782103A>G | NCBI36 |
| NG_008030.1:g.113631A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.1495-106A>G | ENSP00000360885.4:n.1495-106A>G | |
| ENST00000371817.8:c.1495-106A>G MANE Select | ENSP00000360882.3:n.1495-106A>G | |
| ENST00000371817.7:c.1495-106A>G | ENSP00000360882.3:n.1495-106A>G | |
| ENST00000618395.4:c.1495-106A>G | ENSP00000481360.1:n.1495-106A>G | |
| NM_000093.4:c.1495-106A>G | NP_000084.3:n.1495-106A>G | |
| NM_001278074.1:c.1495-106A>G | NP_001265003.1:n.1495-106A>G | |
| XR_929712.1:n.1897-106A>G | ||
| XR_929713.1:n.1897-106A>G | ||
| XM_017014266.2:c.1495-106A>G | XP_016869755.1:n.1495-106A>G | |
| XR_001746183.1:n.1893-106A>G | ||
| NM_000093.5:c.1495-106A>G MANE Select | NP_000084.3:n.1495-106A>G |