Linked Data
ClinVar Variation Id:
3131713
ClinVar RCV Id:
RCV004418572
dbSNP Id:
rs200608822
ExAC:
4:667173 C / T
gnomAD v2:
4-667173-C-T
gnomAD v3:
4-673384-C-T
gnomAD v4:
4-673384-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.673384C>T , CM000666.2:g.673384C>T | GRCh38 |
| NC_000004.11:g.667173C>T , CM000666.1:g.667173C>T | GRCh37 |
| NC_000004.10:g.657173C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304312.5:c.109G>A MANE Select | ENSP00000306003.4:p.Ala37Thr | |
| ENST00000304312.4:c.109G>A | ENSP00000306003.4:p.Ala37Thr | |
| ENST00000505852.1:n.137G>A | ||
| ENST00000506525.5:n.333G>A | ||
| ENST00000515116.1:n.140G>A | ||
| ENST00000515202.5:n.228G>A | ||
| NM_007100.3:c.109G>A | NP_009031.1:p.Ala37Thr | |
| NR_033743.1:n.145G>A | ||
| NM_007100.4:c.109G>A MANE Select | NP_009031.1:p.Ala37Thr | |
| NR_033743.2:n.83G>A |