Linked Data
ClinVar Variation Id:
1059852
ClinVar RCV Id:
RCV001369211
dbSNP Id:
rs2068586748
gnomAD v4:
20-63350889-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350889G>C , CM000682.2:g.63350889G>C | GRCh38 |
| NC_000020.10:g.61982241G>C , CM000682.1:g.61982241G>C | GRCh37 |
| NC_000020.9:g.61452685G>C | NCBI36 |
| NG_011931.1:g.15455C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.522C>G MANE Select | ENSP00000359285.4:p.Asn174Lys | |
| ENST00000370263.8:c.522C>G | ENSP00000359285.4:p.Asn174Lys | |
| ENST00000463705.5:n.1170C>G | ||
| ENST00000467563.3:n.592C>G | ||
| ENST00000498043.6:c.546C>G | ||
| ENST00000615287.4:c.309C>G | ENSP00000483388.1:p.Asn103Lys | |
| ENST00000627000.1:c.*211C>G | ENSP00000486914.1:n.*211C>G | |
| ENST00000630240.1:n.243C>G | ||
| NM_000744.6:c.522C>G | NP_000735.1:p.Asn174Lys | |
| NM_001256573.1:c.-7C>G | NP_001243502.1:n.-7C>G | |
| NR_046317.1:n.778C>G | ||
| XM_011528524.1:c.309C>G | XP_011526826.1:p.Asn103Lys | |
| XM_017027625.2:c.-7C>G | XP_016883114.1:n.-7C>G | |
| XM_024451822.1:c.-7C>G | XP_024307590.1:n.-7C>G | |
| NM_001256573.2:c.-7C>G | NP_001243502.1:n.-7C>G | |
| NR_046317.2:n.731C>G | ||
| NM_000744.7:c.522C>G MANE Select | NP_000735.1:p.Asn174Lys |