Linked Data
ClinVar Variation Id:
7505
ClinVar RCV Id:
RCV000007934
dbSNP Id:
rs121909109
gnomAD v4:
5-135031290-C-T
PubMed:
PMID:18950742
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135031290C>T , CM000667.2:g.135031290C>T | GRCh38 |
| NC_000005.9:g.134366980C>T , CM000667.1:g.134366980C>T | GRCh37 |
| NC_000005.8:g.134394879C>T | NCBI36 |
| NG_012114.1:g.7985G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265340.12:c.388G>A MANE Select | ENSP00000265340.6:p.Glu130Lys | |
| ENST00000265340.11:c.388G>A | ENSP00000265340.6:p.Glu130Lys | |
| ENST00000503586.1:c.510G>A | ||
| ENST00000504936.1:n.721G>A | ||
| ENST00000506438.5:c.388G>A | ENSP00000427542.1:p.Glu130Lys | |
| ENST00000507253.5:c.388G>A | ENSP00000422908.1:p.Glu130Lys | |
| NM_002653.4:c.388G>A | NP_002644.4:p.Glu130Lys | |
| NM_002653.5:c.388G>A MANE Select | NP_002644.4:p.Glu130Lys |