Linked Data
ClinVar Variation Id:
2312220
ClinVar RCV Id:
RCV002884530
dbSNP Id:
rs775318682
ExAC:
16:21721338 G / A
gnomAD v2:
16-21721338-G-A
gnomAD v4:
16-21710017-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21710017G>A , CM000678.2:g.21710017G>A | GRCh38 |
| NC_000016.9:g.21721338G>A , CM000678.1:g.21721338G>A | GRCh37 |
| NC_000016.8:g.21628839G>A | NCBI36 |
| NG_012973.1:g.36504G>A | |
| NG_012973.2:g.50885G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388958.8:c.1234G>A | ENSP00000373610.3:p.Gly412Arg | |
| ENST00000646100.2:c.1234G>A MANE Select | ENSP00000496564.2:p.Gly412Arg | |
| ENST00000647277.1:c.*48G>A | ENSP00000495594.1:n.*48G>A | |
| ENST00000286149.8:c.1276G>A | ENSP00000286149.4:p.Gly426Arg | |
| ENST00000388956.8:c.997G>A | ENSP00000373608.4:p.Gly333Arg | |
| ENST00000388957.3:c.262G>A | ENSP00000373609.3:p.Gly88Arg | |
| ENST00000388958.7:c.1234G>A | ENSP00000373610.3:p.Gly412Arg | |
| ENST00000563871.5:n.454G>A | ||
| NM_001161683.1:c.997G>A | NP_001155155.1:p.Gly333Arg | |
| NM_144672.3:c.1234G>A | NP_653273.3:p.Gly412Arg | |
| NM_170664.2:c.262G>A | NP_733764.1:p.Gly88Arg | |
| XM_011545747.1:c.1234G>A | XP_011544049.1:p.Gly412Arg | |
| XM_011545748.1:c.103G>A | XP_011544050.1:p.Gly35Arg | |
| NM_144672.4:c.1234G>A MANE Select | NP_653273.3:p.Gly412Arg | |
| XM_011545748.2:c.103G>A | XP_011544050.2:p.Gly35Arg | |
| XR_002957775.1:n.329G>A | ||
| NM_001161683.2:c.997G>A | NP_001155155.1:p.Gly333Arg | |
| NM_170664.3:c.262G>A | NP_733764.1:p.Gly88Arg |