Linked Data
ClinVar Variation Id:
162200
dbSNP Id:
rs724159961
ExAC:
12:8813491 C / A
gnomAD v2:
12-8813491-C-A
gnomAD v3:
12-8660895-C-A
gnomAD v4:
12-8660895-C-A
COSMIC:
COSM1994703
PubMed:
PMID:25434006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8660895C>A , CM000674.2:g.8660895C>A | GRCh38 |
| NC_000012.11:g.8813491C>A , CM000674.1:g.8813491C>A | GRCh37 |
| NC_000012.10:g.8704758C>A | NCBI36 |
| NG_041814.1:g.6994G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359478.7:c.62G>T MANE Select | ENSP00000352455.2:p.Trp21Leu | |
| ENST00000359478.6:c.62G>T | ENSP00000352455.2:p.Trp21Leu | |
| ENST00000396549.6:c.62G>T | ENSP00000379798.2:p.Trp21Leu | |
| ENST00000433590.6:c.62G>T | ENSP00000411997.2:p.Trp21Leu | |
| ENST00000534833.5:n.113G>T | ||
| ENST00000535336.5:c.62G>T | ENSP00000438525.1:p.Trp21Leu | |
| ENST00000535411.5:c.31G>T | ||
| ENST00000537009.5:c.62G>T | ENSP00000439289.1:p.Trp21Leu | |
| ENST00000537128.1:n.326G>T | ||
| ENST00000538107.5:n.326G>T | ||
| ENST00000540087.5:c.62G>T | ENSP00000440496.1:p.Trp21Leu | |
| ENST00000543369.5:c.58+1152G>T | ENSP00000441492.1:n.58+1152G>T | |
| ENST00000544211.5:c.62G>T | ENSP00000443839.1:p.Trp21Leu | |
| ENST00000544889.1:c.62G>T | ENSP00000445799.1:p.Trp21Leu | |
| NM_001297709.1:c.62G>T | NP_001284638.1:p.Trp21Leu | |
| NM_001297710.1:c.58+1152G>T | NP_001284639.1:n.58+1152G>T | |
| NM_001297711.1:c.62G>T | NP_001284640.1:p.Trp21Leu | |
| NM_001297712.1:c.62G>T | NP_001284641.1:p.Trp21Leu | |
| NM_003480.3:c.62G>T | NP_003471.1:p.Trp21Leu | |
| NR_123733.1:n.326G>T | ||
| NR_123734.1:n.326G>T | ||
| NM_003480.4:c.62G>T MANE Select | NP_003471.1:p.Trp21Leu | |
| NM_001297709.2:c.62G>T | NP_001284638.1:p.Trp21Leu | |
| NM_001297710.2:c.58+1152G>T | NP_001284639.1:n.58+1152G>T | |
| NM_001297711.2:c.62G>T | NP_001284640.1:p.Trp21Leu | |
| NM_001297712.2:c.62G>T | NP_001284641.1:p.Trp21Leu | |
| NR_123733.2:n.264G>T | ||
| NR_123734.2:n.264G>T |