Linked Data
ClinVar Variation Id:
203991
ClinVar RCV Id:
RCV000203255
dbSNP Id:
rs864309643
gnomAD v4:
3-45516144-G-A
PubMed:
PMID:26657938
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45516144G>A , CM000665.2:g.45516144G>A | GRCh38 |
| NC_000003.11:g.45557636G>A , CM000665.1:g.45557636G>A | GRCh37 |
| NC_000003.10:g.45532640G>A | NCBI36 |
| NG_033907.1:g.132562G>A | |
| NG_033907.2:g.132562G>A | |
| NG_033907.3:g.132581G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265537.8:c.*302G>A | ENSP00000265537.4:n.*302G>A | |
| ENST00000642274.1:c.1912G>A | ENSP00000495707.1:p.Glu638Lys | |
| ENST00000645846.2:c.1912G>A MANE Select | ENSP00000495093.1:p.Glu638Lys | |
| ENST00000650792.2:c.1912G>A | ENSP00000498867.1:p.Glu638Lys | |
| ENST00000651549.1:c.*202G>A | ENSP00000499002.1:n.*202G>A | |
| ENST00000652135.1:c.*1780G>A | ENSP00000499104.1:n.*1780G>A | |
| ENST00000265537.7:c.1912G>A | ENSP00000265537.3:p.Glu638Lys | |
| ENST00000414984.5:c.1783G>A | ENSP00000412893.1:p.Glu595Lys | |
| ENST00000415258.5:c.1912G>A | ENSP00000408576.1:p.Glu638Lys | |
| ENST00000467936.5:n.191G>A | ||
| NM_015340.3:c.1912G>A | NP_056155.1:p.Glu638Lys | |
| XM_005265006.1:c.1912G>A | XP_005265063.1:p.Glu638Lys | |
| XM_011533554.1:c.1912G>A | XP_011531856.1:p.Glu638Lys | |
| XM_005265006.2:c.1912G>A | XP_005265063.1:p.Glu638Lys | |
| XM_011533554.2:c.1912G>A | XP_011531856.1:p.Glu638Lys | |
| XM_017006042.1:c.1912G>A | XP_016861531.1:p.Glu638Lys | |
| NM_015340.4:c.1912G>A MANE Select | NP_056155.1:p.Glu638Lys | |
| NM_001368263.1:c.1912G>A | NP_001355192.1:p.Glu638Lys |