Linked Data
ClinVar Variation Id:
3178813
ClinVar RCV Id:
RCV004475185
dbSNP Id:
rs140710710
ExAC:
19:48837381 T / C
gnomAD v2:
19-48837381-T-C
gnomAD v3:
19-48334124-T-C
gnomAD v4:
19-48334124-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48334124T>C , CM000681.2:g.48334124T>C | GRCh38 |
| NC_000019.9:g.48837381T>C , CM000681.1:g.48837381T>C | GRCh37 |
| NC_000019.8:g.53529193T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293261.8:c.1049A>G MANE Select | ENSP00000293261.2:p.Asn350Ser | |
| ENST00000293261.7:c.1049A>G | ENSP00000293261.2:p.Asn350Ser | |
| ENST00000377431.6:c.749A>G | ENSP00000366649.1:p.Asn250Ser | |
| ENST00000435956.7:c.944A>G | ENSP00000397038.2:p.Asn315Ser | |
| ENST00000600816.1:n.536A>G | ||
| NM_001303538.1:c.944A>G | NP_001290467.1:p.Asn315Ser | |
| NM_001303539.1:c.854A>G | NP_001290468.1:p.Asn285Ser | |
| NM_001303540.1:c.749A>G | NP_001290469.1:p.Asn250Ser | |
| NM_018273.3:c.1049A>G | NP_060743.2:p.Asn350Ser | |
| NR_130317.1:n.1020A>G | ||
| NM_018273.4:c.1049A>G MANE Select | NP_060743.2:p.Asn350Ser | |
| NM_001303538.2:c.944A>G | NP_001290467.1:p.Asn315Ser | |
| NM_001303539.2:c.854A>G | NP_001290468.1:p.Asn285Ser | |
| NM_001303540.2:c.749A>G | NP_001290469.1:p.Asn250Ser | |
| NR_130317.2:n.723A>G |