Linked Data
ClinVar Variation Id:
349739
dbSNP Id:
rs759150629
ExAC:
4:79373429 G / A
gnomAD v2:
4-79373429-G-A
gnomAD v4:
4-78452275-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78452275G>A , CM000666.2:g.78452275G>A | GRCh38 |
| NC_000004.11:g.79373429G>A , CM000666.1:g.79373429G>A | GRCh37 |
| NC_000004.10:g.79592453G>A | NCBI36 |
| NG_015812.1:g.399706G>A | |
| NG_015812.2:g.399706G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.6684G>A | ENSP00000508201.1:p.Gln2228= | |
| ENST00000512123.4:c.6684G>A MANE Select | ENSP00000422834.2:p.Gln2228= | |
| ENST00000512123.3:c.6684G>A | ENSP00000422834.2:p.Gln2228= | |
| NM_025074.6:c.6684G>A | NP_079350.5:p.Gln2228= | |
| XM_006714314.1:c.6678G>A | XP_006714377.1:p.Gln2226= | |
| XM_006714316.1:c.6684G>A | XP_006714379.1:p.Gln2228= | |
| XM_011532270.1:c.4383G>A | XP_011530572.1:p.Gln1461= | |
| XM_011532271.1:c.1572G>A | XP_011530573.1:p.Gln524= | |
| XM_006714316.3:c.6684G>A | XP_006714379.1:p.Gln2228= | |
| NM_025074.7:c.6684G>A MANE Select | NP_079350.5:p.Gln2228= |