Linked Data
ClinVar Variation Id:
1584207
ClinVar RCV Id:
RCV002100316
dbSNP Id:
rs950336124
gnomAD v3:
19-41970379-A-C
gnomAD v4:
19-41970379-A-C
MyVariant Identifiers:
chr19:g.41970379A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41970379A>C , CM000681.2:g.41970379A>C | GRCh38 |
| NC_000019.9:g.42474531A>C , CM000681.1:g.42474531A>C | GRCh37 |
| NC_000019.8:g.47166371A>C | NCBI36 |
| NG_008015.1:g.28852T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.2457+9T>G | ENSP00000444688.1:n.2457+9T>G | |
| ENST00000644613.1:c.2418+9T>G | ENSP00000494711.1:n.2418+9T>G | |
| ENST00000648268.1:c.2418+9T>G MANE Select | ENSP00000498113.1:n.2418+9T>G | |
| ENST00000302102.9:c.2418+9T>G | ENSP00000302397.5:n.2418+9T>G | |
| ENST00000441343.5:c.2418+9T>G | ENSP00000411503.1:n.2418+9T>G | |
| ENST00000543770.5:c.2451+9T>G | ENSP00000437577.1:n.2451+9T>G | |
| ENST00000545399.5:c.2457+9T>G | ENSP00000444688.1:n.2457+9T>G | |
| ENST00000602133.5:c.2328+9T>G | ENSP00000471581.1:n.2328+9T>G | |
| NM_001256213.1:c.2451+9T>G | NP_001243142.1:n.2451+9T>G | |
| NM_001256214.1:c.2457+9T>G | NP_001243143.1:n.2457+9T>G | |
| NM_152296.4:c.2418+9T>G | NP_689509.1:n.2418+9T>G | |
| XM_011526991.1:c.2328+9T>G | XP_011525293.1:n.2328+9T>G | |
| NM_152296.5:c.2418+9T>G MANE Select | NP_689509.1:n.2418+9T>G | |
| NM_001256214.2:c.2457+9T>G | NP_001243143.1:n.2457+9T>G | |
| NM_001256213.2:c.2451+9T>G | NP_001243142.1:n.2451+9T>G |