Linked Data
ClinVar Variation Id:
957544
ClinVar RCV Id:
RCV001230536
dbSNP Id:
rs770240412
ExAC:
4:178360734 C / G
gnomAD v2:
4-178360734-C-G
gnomAD v4:
4-177439580-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439580C>G , CM000666.2:g.177439580C>G | GRCh38 |
| NC_000004.11:g.178360734C>G , CM000666.1:g.178360734C>G | GRCh37 |
| NC_000004.10:g.178597728C>G | NCBI36 |
| NG_011845.2:g.7924G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.390G>C MANE Select | ENSP00000264595.2:p.Glu130Asp | |
| ENST00000264595.6:c.390G>C | ENSP00000264595.2:p.Glu130Asp | |
| ENST00000502310.5:c.45G>C | ENSP00000423798.1:p.Glu15Asp | |
| ENST00000506853.5:n.424G>C | ||
| ENST00000510635.1:c.86G>C | ||
| ENST00000510955.5:n.315+693G>C | ||
| NM_000027.3:c.390G>C | NP_000018.2:p.Glu130Asp | |
| NM_001171988.1:c.390G>C | NP_001165459.1:p.Glu130Asp | |
| NR_033655.1:n.518G>C | ||
| XM_006714123.2:c.390G>C | XP_006714186.1:p.Glu130Asp | |
| XR_001741155.2:n.484G>C | ||
| NM_000027.4:c.390G>C MANE Select | NP_000018.2:p.Glu130Asp | |
| NM_001171988.2:c.390G>C | NP_001165459.1:p.Glu130Asp | |
| NR_033655.2:n.452G>C |