Linked Data
ClinVar Variation Id:
3015399
ClinVar RCV Id:
RCV003871006
dbSNP Id:
rs778751703
ExAC:
20:61982116 C / G
gnomAD v2:
20-61982116-C-G
gnomAD v3:
20-63350764-C-G
gnomAD v4:
20-63350764-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350764C>G , CM000682.2:g.63350764C>G | GRCh38 |
| NC_000020.10:g.61982116C>G , CM000682.1:g.61982116C>G | GRCh37 |
| NC_000020.9:g.61452560C>G | NCBI36 |
| NG_011931.1:g.15580G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.647G>C MANE Select | ENSP00000359285.4:p.Gly216Ala | |
| ENST00000370263.8:c.647G>C | ENSP00000359285.4:p.Gly216Ala | |
| ENST00000463705.5:n.1295G>C | ||
| ENST00000467563.3:n.717G>C | ||
| ENST00000498043.6:c.671G>C | ||
| ENST00000615287.4:c.434G>C | ENSP00000483388.1:p.Gly145Ala | |
| ENST00000627000.1:c.*336G>C | ENSP00000486914.1:n.*336G>C | |
| ENST00000630240.1:n.368G>C | ||
| NM_000744.6:c.647G>C | NP_000735.1:p.Gly216Ala | |
| NM_001256573.1:c.119G>C | NP_001243502.1:p.Gly40Ala | |
| NR_046317.1:n.903G>C | ||
| XM_011528524.1:c.434G>C | XP_011526826.1:p.Gly145Ala | |
| XM_017027625.2:c.119G>C | XP_016883114.1:p.Gly40Ala | |
| XM_024451822.1:c.119G>C | XP_024307590.1:p.Gly40Ala | |
| NM_001256573.2:c.119G>C | NP_001243502.1:p.Gly40Ala | |
| NR_046317.2:n.856G>C | ||
| NM_000744.7:c.647G>C MANE Select | NP_000735.1:p.Gly216Ala |