Linked Data
ClinVar Variation Id:
1283203
ClinVar RCV Id:
RCV001689462
dbSNP Id:
rs7250381
ExAC:
19:13050201 A / G
gnomAD v2:
19-13050201-A-G
gnomAD v3:
19-12939387-A-G
gnomAD v4:
19-12939387-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12939387A>G , CM000681.2:g.12939387A>G | GRCh38 |
| NC_000019.9:g.13050201A>G , CM000681.1:g.13050201A>G | GRCh37 |
| NC_000019.8:g.12911201A>G | NCBI36 |
| NG_029662.1:g.5788A>G , LRG_828:g.5788A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316448.10:c.194-41A>G MANE Select | ENSP00000320866.4:n.194-41A>G | |
| ENST00000586760.2:c.194-41A>G | ENSP00000465918.2:n.194-41A>G | |
| ENST00000586967.2:c.194-41A>G | ENSP00000466037.2:n.194-41A>G | |
| ENST00000588454.6:c.193+152A>G | ENSP00000465105.2:n.193+152A>G | |
| ENST00000680816.1:c.194-41A>G | ENSP00000504963.1:n.194-41A>G | |
| ENST00000316448.9:c.194-41A>G | ENSP00000320866.4:n.194-41A>G | |
| ENST00000587486.6:n.659-41A>G | ||
| ENST00000588454.5:c.193+152A>G | ENSP00000465105.1:n.193+152A>G | |
| ENST00000590325.1:n.260-41A>G | ||
| NM_004343.3:c.194-41A>G , LRG_828t1:c.194-41A>G | NP_004334.1:n.194-41A>G | |
| NM_004343.4:c.194-41A>G MANE Select | NP_004334.1:n.194-41A>G |