Linked Data
ClinVar Variation Id:
30224
dbSNP Id:
rs201824781
ExAC:
2:38302377 G / A
gnomAD v2:
2-38302377-G-A
gnomAD v3:
2-38075234-G-A
gnomAD v4:
2-38075234-G-A
PubMed:
PMID:19643970
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075234G>A , CM000664.2:g.38075234G>A | GRCh38 |
| NC_000002.11:g.38302377G>A , CM000664.1:g.38302377G>A | GRCh37 |
| NC_000002.10:g.38155881G>A | NCBI36 |
| NG_008386.2:g.5868C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490576.2:c.155C>T | ENSP00000478839.2:p.Pro52Leu | |
| ENST00000610745.5:c.155C>T MANE Select | ENSP00000478561.1:p.Pro52Leu | |
| ENST00000490576.1:c.155C>T | ENSP00000478839.1:p.Pro52Leu | |
| ENST00000494864.1:c.-70-3924C>T | ENSP00000479876.1:n.-70-3924C>T | |
| ENST00000610745.4:c.155C>T | ENSP00000478561.1:p.Pro52Leu | |
| ENST00000613082.1:n.375+546C>T | ||
| ENST00000614273.1:c.155C>T | ENSP00000483678.1:p.Pro52Leu | |
| NM_000104.3:c.155C>T | NP_000095.2:p.Pro52Leu | |
| NM_000104.4:c.155C>T MANE Select | NP_000095.2:p.Pro52Leu |