Linked Data
ClinVar Variation Id:
29894
ClinVar RCV Id:
RCV000022776
dbSNP Id:
rs387906690
ExAC:
9:127262847 G / A
gnomAD v2:
9-127262847-G-A
gnomAD v3:
9-124500568-G-A
gnomAD v4:
9-124500568-G-A
COSMIC:
COSM5032471
PubMed:
PMID:20887963
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124500568G>A , CM000671.2:g.124500568G>A | GRCh38 |
| NC_000009.11:g.127262847G>A , CM000671.1:g.127262847G>A | GRCh37 |
| NC_000009.10:g.126302668G>A | NCBI36 |
| NG_008176.1:g.11853C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373588.9:c.392C>T MANE Select | ENSP00000362690.4:p.Pro131Leu | |
| ENST00000373587.3:c.40-296C>T | ENSP00000362689.3:n.40-296C>T | |
| ENST00000373588.8:c.392C>T | ENSP00000362690.4:p.Pro131Leu | |
| ENST00000455734.1:c.392C>T | ENSP00000393245.1:p.Pro131Leu | |
| ENST00000620110.4:c.392C>T | ENSP00000483309.1:p.Pro131Leu | |
| NM_004959.4:c.392C>T | NP_004950.2:p.Pro131Leu | |
| XM_005251871.2:c.392C>T | XP_005251928.1:p.Pro131Leu | |
| XM_005251872.3:c.131C>T | XP_005251929.1:p.Pro44Leu | |
| XM_011518455.1:c.392C>T | XP_011516757.1:p.Pro131Leu | |
| XM_011518456.1:c.392C>T | XP_011516758.1:p.Pro131Leu | |
| NM_004959.5:c.392C>T MANE Select | NP_004950.2:p.Pro131Leu |