Linked Data
ClinVar Variation Id:
246446
dbSNP Id:
rs371006369
gnomAD v2:
19-10912955-C-G
gnomAD v3:
19-10802279-C-G
gnomAD v4:
19-10802279-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10802279C>G , CM000681.2:g.10802279C>G | GRCh38 |
| NC_000019.9:g.10912955C>G , CM000681.1:g.10912955C>G | GRCh37 |
| NC_000019.8:g.10773955C>G | NCBI36 |
| NG_008792.1:g.89201C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682285.1:n.1611-9C>G | ||
| ENST00000683738.1:n.1750-9C>G | ||
| ENST00000355667.11:c.1423-9C>G | ENSP00000347890.6:n.1423-9C>G | |
| ENST00000389253.9:c.1423-9C>G MANE Select | ENSP00000373905.4:n.1423-9C>G | |
| ENST00000355667.10:c.1423-9C>G | ENSP00000347890.6:n.1423-9C>G | |
| ENST00000359692.10:c.1423-9C>G | ENSP00000352721.6:n.1423-9C>G | |
| ENST00000389253.8:c.1423-9C>G | ENSP00000373905.3:n.1423-9C>G | |
| ENST00000408974.8:c.1423-9C>G | ENSP00000386192.3:n.1423-9C>G | |
| ENST00000585892.5:c.1423-9C>G | ENSP00000468734.1:n.1423-9C>G | |
| ENST00000587329.1:n.187-9C>G | ||
| ENST00000587830.2:c.679-9C>G | ENSP00000466603.2:n.679-9C>G | |
| NM_001005360.2:c.1423-9C>G | NP_001005360.1:n.1423-9C>G | |
| NM_001005361.2:c.1423-9C>G | NP_001005361.1:n.1423-9C>G | |
| NM_001005362.2:c.1423-9C>G | NP_001005362.1:n.1423-9C>G | |
| NM_001190716.1:c.1423-9C>G | NP_001177645.1:n.1423-9C>G | |
| NM_004945.3:c.1423-9C>G | NP_004936.2:n.1423-9C>G | |
| NM_001005361.3:c.1423-9C>G MANE Select | NP_001005361.1:n.1423-9C>G | |
| NM_001190716.2:c.1423-9C>G | NP_001177645.1:n.1423-9C>G | |
| NM_001005360.3:c.1423-9C>G | NP_001005360.1:n.1423-9C>G | |
| NM_001005362.3:c.1423-9C>G | NP_001005362.1:n.1423-9C>G | |
| NM_004945.4:c.1423-9C>G | NP_004936.2:n.1423-9C>G |