Linked Data
ClinVar Variation Id:
126349
dbSNP Id:
rs2296212
ExAC:
9:2191309 C / G
gnomAD v2:
9-2191309-C-G
gnomAD v3:
9-2191309-C-G
gnomAD v4:
9-2191309-C-G
PubMed:
PMID:19363039
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2191309C>G , CM000671.2:g.2191309C>G | GRCh38 |
| NC_000009.11:g.2191309C>G , CM000671.1:g.2191309C>G | GRCh37 |
| NC_000009.10:g.2181309C>G | NCBI36 |
| NG_032162.1:g.180968C>G | |
| NG_032162.2:g.216020C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704350.1:c.4224C>G | ENSP00000515861.1:p.Asp1408Glu | |
| ENST00000704352.1:c.1776C>G | ENSP00000515863.1:p.Asp592Glu | |
| ENST00000704353.1:c.1830C>G | ENSP00000515864.1:p.Asp610Glu | |
| ENST00000704354.1:c.4568C>G | ||
| ENST00000704355.1:c.2948C>G | ||
| ENST00000349721.8:c.4638C>G MANE Select | ENSP00000265773.5:p.Asp1546Glu | |
| ENST00000357248.8:c.4584C>G | ENSP00000349788.2:p.Asp1528Glu | |
| ENST00000635739.1:n.3252C>G | ||
| ENST00000636157.1:n.2191C>G | ||
| ENST00000636367.1:c.*434C>G | ENSP00000489942.1:n.*434C>G | |
| ENST00000638139.1:n.1672C>G | ||
| ENST00000639760.2:c.691C>G | ||
| ENST00000302401.8:c.702C>G | ENSP00000305411.3:p.Asp234Glu | |
| ENST00000324954.10:c.612C>G | ENSP00000324770.6:p.Asp204Glu | |
| ENST00000349721.7:c.4638C>G | ENSP00000265773.5:p.Asp1546Glu | |
| ENST00000357248.7:c.4584C>G | ENSP00000349788.2:p.Asp1528Glu | |
| ENST00000382183.6:c.576C>G | ENSP00000371618.1:p.Asp192Glu | |
| ENST00000382185.6:c.696C>G | ENSP00000371620.2:p.Asp232Glu | |
| ENST00000382186.6:c.630C>G | ENSP00000371621.1:p.Asp210Glu | |
| ENST00000382194.6:c.4584C>G | ENSP00000371629.1:p.Asp1528Glu | |
| ENST00000382203.5:c.4638C>G | ENSP00000371638.1:p.Asp1546Glu | |
| ENST00000416751.2:c.576C>G | ENSP00000412242.2:p.Asp192Glu | |
| ENST00000417599.6:c.696C>G | ENSP00000387486.2:p.Asp232Glu | |
| ENST00000450198.6:c.4410C>G | ENSP00000392081.2:p.Asp1470Glu | |
| ENST00000634760.1:c.*245C>G | ENSP00000489256.1:n.*245C>G | |
| ENST00000634781.1:c.648C>G | ENSP00000489302.1:p.Asp216Glu | |
| ENST00000634931.1:c.630C>G | ENSP00000489433.1:p.Asp210Glu | |
| ENST00000634989.1:c.*434C>G | ENSP00000489100.1:n.*434C>G | |
| ENST00000635273.1:n.480C>G | ||
| ENST00000635388.1:c.576C>G | ENSP00000489271.1:p.Asp192Glu | |
| ENST00000635590.1:c.*434C>G | ENSP00000489587.1:n.*434C>G | |
| ENST00000635659.1:c.729C>G | ||
| NM_001289396.1:c.4638C>G | NP_001276325.1:p.Asp1546Glu | |
| NM_001289397.1:c.4410C>G | NP_001276326.1:p.Asp1470Glu | |
| NM_001289398.1:c.612C>G | NP_001276327.1:p.Asp204Glu | |
| NM_001289399.1:c.696C>G | NP_001276328.1:p.Asp232Glu | |
| NM_001289400.1:c.702C>G | NP_001276329.1:p.Asp234Glu | |
| NM_003070.4:c.4638C>G | NP_003061.3:p.Asp1546Glu | |
| NM_139045.3:c.4584C>G | NP_620614.2:p.Asp1528Glu | |
| XR_001746600.1:n.1362-10287G>C | ||
| XR_001746601.1:n.1316-10287G>C | ||
| NM_003070.5:c.4638C>G MANE Select | NP_003061.3:p.Asp1546Glu | |
| NM_001289397.2:c.4410C>G | NP_001276326.1:p.Asp1470Glu | |
| NM_001289398.2:c.612C>G | NP_001276327.1:p.Asp204Glu | |
| NM_139045.4:c.4584C>G | NP_620614.2:p.Asp1528Glu |