Linked Data
ClinVar Variation Id:
323095
ClinVar RCV Id:
RCV000342351
dbSNP Id:
rs138102206
ExAC:
17:39659664 C / T
gnomAD v2:
17-39659664-C-T
gnomAD v3:
17-41503412-C-T
gnomAD v4:
17-41503412-C-T
COSMIC:
COSM215682
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41503412C>T , CM000679.2:g.41503412C>T | GRCh38 |
| NC_000017.10:g.39659664C>T , CM000679.1:g.39659664C>T | GRCh37 |
| NC_000017.9:g.36913190C>T | NCBI36 |
| NG_008406.1:g.7202G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246635.8:c.610G>A MANE Select | ENSP00000246635.3:p.Val204Met | |
| ENST00000246635.7:c.610G>A | ENSP00000246635.3:p.Val204Met | |
| ENST00000336861.7:c.610G>A | ENSP00000336604.3:p.Val204Met | |
| ENST00000464634.2:c.*207G>A | ENSP00000466525.1:n.*207G>A | |
| ENST00000468313.5:n.446G>A | ||
| ENST00000587435.1:c.400-69G>A | ENSP00000467833.1:n.400-69G>A | |
| ENST00000587544.5:c.610G>A | ENSP00000468221.1:p.Val204Met | |
| ENST00000590425.1:c.289G>A | ENSP00000466465.1:p.Val97Met | |
| NM_002274.3:c.610G>A | NP_002265.2:p.Val204Met | |
| NM_153490.2:c.610G>A | NP_705694.2:p.Val204Met | |
| NM_153490.3:c.610G>A MANE Select | NP_705694.3:p.Val204Met | |
| NM_002274.4:c.610G>A | NP_002265.3:p.Val204Met |