Linked Data
ClinVar Variation Id:
427787
ClinVar RCV Id:
RCV000492062
dbSNP Id:
rs1131690798
gnomAD v4:
19-42242320-C-G
PubMed:
PMID:28701297
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42242320C>G , CM000681.2:g.42242320C>G | GRCh38 |
| NC_000019.9:g.42746472C>G , CM000681.1:g.42746472C>G | GRCh37 |
| NC_000019.8:g.47438312C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222330.8:c.146G>C MANE Select | ENSP00000222330.3:p.Gly49Ala | |
| ENST00000676537.1:c.94+52G>C | ENSP00000503256.1:n.94+52G>C | |
| ENST00000676949.1:n.31-2178G>C | ||
| ENST00000678258.1:c.146G>C | ENSP00000504792.1:p.Gly49Ala | |
| ENST00000678276.1:c.146G>C | ENSP00000502930.1:p.Gly49Ala | |
| ENST00000678491.1:c.146G>C | ENSP00000504460.1:p.Gly49Ala | |
| ENST00000222330.7:c.146G>C | ENSP00000222330.3:p.Gly49Ala | |
| ENST00000453535.1:c.146G>C | ENSP00000412663.1:p.Gly49Ala | |
| ENST00000594664.1:c.23-2178G>C | ENSP00000470087.1:n.23-2178G>C | |
| NM_019884.2:c.146G>C | NP_063937.2:p.Gly49Ala | |
| XR_001753673.1:n.1011G>C | ||
| NM_019884.3:c.146G>C MANE Select | NP_063937.2:p.Gly49Ala |