Linked Data
dbSNP Id:
rs104893791
ExAC:
3:129249805 G / C
gnomAD v2:
3-129249805-G-C
gnomAD v3:
3-129530962-G-C
gnomAD v4:
3-129530962-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129530962G>C , CM000665.2:g.129530962G>C | GRCh38 |
| NC_000003.11:g.129249805G>C , CM000665.1:g.129249805G>C | GRCh37 |
| NC_000003.10:g.130732495G>C | NCBI36 |
| NG_009115.1:g.7324G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296271.4:c.448G>C MANE Select | ENSP00000296271.3:p.Glu150Gln | |
| ENST00000296271.3:c.448G>C | ENSP00000296271.3:p.Glu150Gln | |
| NM_000539.3:c.448G>C MANE Select | NP_000530.1:p.Glu150Gln |