Linked Data
ClinVar Variation Id:
805017
dbSNP Id:
rs573007540
ExAC:
1:161277071 C / T
gnomAD v2:
1-161277071-C-T
gnomAD v3:
1-161307281-C-T
gnomAD v4:
1-161307281-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161307281C>T , CM000663.2:g.161307281C>T | GRCh38 |
| NC_000001.10:g.161277071C>T , CM000663.1:g.161277071C>T | GRCh37 |
| NC_000001.9:g.159543695C>T | NCBI36 |
| NG_008055.1:g.7692G>A , LRG_256:g.7692G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.211G>A | ENSP00000488104.2:p.Glu71Lys | |
| ENST00000533357.5:c.211G>A MANE Select | ENSP00000432943.1:p.Glu71Lys | |
| ENST00000672287.2:c.-378G>A | ENSP00000499818.2:n.-378G>A | |
| ENST00000672602.2:c.211G>A | ENSP00000500814.2:p.Glu71Lys | |
| ENST00000674861.1:n.274G>A | ||
| ENST00000463290.5:c.211G>A | ENSP00000431538.1:p.Glu71Lys | |
| ENST00000491222.5:c.-378G>A | ENSP00000431441.1:n.-378G>A | |
| ENST00000533357.4:c.211G>A | ENSP00000432943.1:p.Glu71Lys | |
| NM_000530.6:c.211G>A , LRG_256t1:c.211G>A | NP_000521.2:p.Glu71Lys | |
| NM_000530.7:c.211G>A | NP_000521.2:p.Glu71Lys | |
| NM_001315491.1:c.211G>A | NP_001302420.1:p.Glu71Lys | |
| XM_017001321.2:c.241G>A | XP_016856810.1:p.Glu81Lys | |
| NM_000530.8:c.211G>A MANE Select | NP_000521.2:p.Glu71Lys | |
| NM_001315491.2:c.211G>A | NP_001302420.1:p.Glu71Lys |