Linked Data
ClinVar Variation Id:
42029
ClinVar RCV Id:
RCV000034867
dbSNP Id:
rs387907346
gnomAD v4:
14-68978963-G-T
PubMed:
PMID:23434115
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.68978963G>T , CM000676.2:g.68978963G>T | GRCh38 |
| NC_000014.8:g.69445680G>T , CM000676.1:g.69445680G>T | GRCh37 |
| NC_000014.7:g.68515433G>T | NCBI36 |
| NG_029480.1:g.5404C>A , LRG_886:g.5404C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682130.1:n.382C>A | ||
| ENST00000682291.1:c.94C>A | ENSP00000507093.1:p.Gln32Lys | |
| ENST00000682298.1:n.382C>A | ||
| ENST00000682331.1:c.94C>A | ENSP00000508329.1:p.Gln32Lys | |
| ENST00000682378.1:n.382C>A | ||
| ENST00000682381.1:n.382C>A | ||
| ENST00000682559.1:c.94C>A | ENSP00000507271.1:p.Gln32Lys | |
| ENST00000682602.1:n.188C>A | ||
| ENST00000683069.1:n.382C>A | ||
| ENST00000683198.1:c.94C>A | ENSP00000507889.1:p.Gln32Lys | |
| ENST00000683261.1:n.382C>A | ||
| ENST00000683267.1:c.94C>A | ENSP00000508356.1:p.Gln32Lys | |
| ENST00000683342.1:c.94C>A | ENSP00000508301.1:p.Gln32Lys | |
| ENST00000683780.1:n.382C>A | ||
| ENST00000684146.1:n.382C>A | ||
| ENST00000684340.1:n.382C>A | ||
| ENST00000684598.1:c.94C>A | ENSP00000507785.1:p.Gln32Lys | |
| ENST00000684638.1:c.94C>A | ENSP00000507609.1:p.Gln32Lys | |
| ENST00000684639.1:c.94C>A | ENSP00000507653.1:p.Gln32Lys | |
| ENST00000684713.1:c.94C>A | ENSP00000507155.1:p.Gln32Lys | |
| ENST00000394419.9:c.94C>A MANE Select | ENSP00000377941.4:p.Gln32Lys | |
| ENST00000679147.1:c.94C>A | ENSP00000504355.1:p.Gln32Lys | |
| ENST00000193403.10:c.94C>A | ENSP00000193403.6:p.Gln32Lys | |
| ENST00000394419.8:c.94C>A | ENSP00000377941.4:p.Gln32Lys | |
| ENST00000438964.6:c.94C>A | ENSP00000414272.2:p.Gln32Lys | |
| ENST00000538545.6:c.94C>A | ENSP00000439828.2:p.Gln32Lys | |
| ENST00000556203.1:n.69C>A | ||
| NM_001102.3:c.94C>A | NP_001093.1:p.Gln32Lys | |
| NM_001130004.1:c.94C>A , LRG_886t1:c.94C>A | NP_001123476.1:p.Gln32Lys | |
| NM_001130005.1:c.94C>A | NP_001123477.1:p.Gln32Lys | |
| XM_011537269.1:c.94C>A | XP_011535571.1:p.Gln32Lys | |
| XM_017021722.2:c.94C>A | XP_016877211.1:p.Gln32Lys | |
| XM_017021723.2:c.94C>A | XP_016877212.1:p.Gln32Lys | |
| XM_017021727.2:c.94C>A | XP_016877216.1:p.Gln32Lys | |
| NM_001102.4:c.94C>A | NP_001093.1:p.Gln32Lys | |
| NM_001130005.2:c.94C>A | NP_001123477.1:p.Gln32Lys | |
| NM_001130004.2:c.94C>A MANE Select | NP_001123476.1:p.Gln32Lys |