Linked Data
ClinVar Variation Id:
68
dbSNP Id:
rs121918058
gnomAD v4:
1-45013933-G-A
PubMed:
PMID:1905636
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45013933G>A , CM000663.2:g.45013933G>A | GRCh38 |
| NC_000001.10:g.45479605G>A , CM000663.1:g.45479605G>A | GRCh37 |
| NC_000001.9:g.45252192G>A | NCBI36 |
| NG_007122.2:g.6776G>A | |
| NG_033058.1:g.2423C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000246337.9:c.499G>A MANE Select | ENSP00000246337.4:p.Glu167Lys | |
| ENST00000434478.6:c.553G>A | ENSP00000404489.2:p.Glu185Lys | |
| ENST00000491773.6:c.394G>A | ENSP00000498551.1:p.Glu132Lys | |
| ENST00000636293.1:c.499G>A | ENSP00000490710.1:p.Glu167Lys | |
| ENST00000636836.1:c.499G>A | ENSP00000490594.1:p.Glu167Lys | |
| ENST00000651476.1:c.394G>A | ENSP00000498668.1:p.Glu132Lys | |
| ENST00000652165.1:c.394G>A | ENSP00000498295.1:p.Glu132Lys | |
| ENST00000652287.1:c.436G>A | ENSP00000498413.1:p.Glu146Lys | |
| ENST00000652514.1:c.460G>A | ENSP00000498635.1:n.460G>A | |
| ENST00000246337.8:c.499G>A | ENSP00000246337.4:p.Glu167Lys | |
| ENST00000428106.1:c.454+142G>A | ||
| ENST00000434478.5:c.436G>A | ENSP00000404489.1:p.Glu146Lys | |
| ENST00000460334.5:n.526G>A | ||
| ENST00000460906.5:n.633G>A | ||
| ENST00000462688.5:n.626G>A | ||
| ENST00000469548.5:n.695G>A | ||
| ENST00000473012.1:n.546G>A | ||
| ENST00000478467.5:n.502G>A | ||
| ENST00000486699.5:n.619G>A | ||
| ENST00000490385.5:n.573G>A | ||
| ENST00000491300.5:n.618G>A | ||
| ENST00000491773.5:n.653G>A | ||
| ENST00000494399.5:n.639G>A | ||
| ENST00000496439.1:n.595G>A | ||
| NM_000374.4:c.499G>A | NP_000365.3:p.Glu167Lys | |
| NR_036510.1:n.682G>A | ||
| XM_005271169.1:c.283G>A | XP_005271226.1:p.Glu95Lys | |
| XM_005271170.1:c.283G>A | XP_005271227.1:p.Glu95Lys | |
| XM_011542080.1:c.436G>A | XP_011540382.1:p.Glu146Lys | |
| XM_011542081.1:c.331G>A | XP_011540383.1:p.Glu111Lys | |
| NM_000374.5:c.499G>A MANE Select | NP_000365.3:p.Glu167Lys | |
| NR_158184.1:n.580G>A | ||
| NR_158185.1:n.530G>A | ||
| NR_036510.2:n.561G>A |