Linked Data
ClinVar Variation Id:
522948
ClinVar RCV Id:
RCV000626145
dbSNP Id:
rs1064794609
gnomAD v2:
16-89713646-C-T
gnomAD v4:
16-89647238-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89647238C>T , CM000678.2:g.89647238C>T | GRCh38 |
| NC_000016.9:g.89713646C>T , CM000678.1:g.89713646C>T | GRCh37 |
| NC_000016.8:g.88241147C>T | NCBI36 |
| NG_033005.1:g.15548G>A | |
| NG_033005.2:g.15548G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397901.8:c.346G>A MANE Select | ENSP00000380998.3:p.Glu116Lys | |
| ENST00000535997.7:c.346G>A | ENSP00000442120.3:p.Glu116Lys | |
| ENST00000547687.2:n.606G>A | ||
| ENST00000549328.2:c.346G>A | ENSP00000447899.1:p.Glu116Lys | |
| ENST00000551981.6:n.433G>A | ||
| ENST00000674799.1:c.154G>A | ENSP00000502267.1:p.Glu52Lys | |
| ENST00000675016.1:c.*1670G>A | ENSP00000502282.1:n.*1670G>A | |
| ENST00000675076.1:n.342G>A | ||
| ENST00000675161.1:c.346G>A | ENSP00000501615.1:p.Glu116Lys | |
| ENST00000675309.1:c.*219G>A | ENSP00000502291.1:n.*219G>A | |
| ENST00000675536.1:c.401G>A | ENSP00000501759.1:p.Arg134Gln | |
| ENST00000675778.1:c.199G>A | ENSP00000502825.1:p.Glu67Lys | |
| ENST00000675909.1:c.154G>A | ENSP00000502022.1:p.Glu52Lys | |
| ENST00000675952.1:n.615G>A | ||
| ENST00000676118.1:c.*263G>A | ENSP00000501619.1:n.*263G>A | |
| ENST00000676342.1:n.1804G>A | ||
| ENST00000676355.1:c.355G>A | ENSP00000502147.1:p.Glu119Lys | |
| ENST00000676402.1:c.*341G>A | ENSP00000501794.1:n.*341G>A | |
| ENST00000397901.7:c.346G>A | ENSP00000380998.3:p.Glu116Lys | |
| ENST00000535997.6:c.154G>A | ENSP00000442120.2:p.Glu52Lys | |
| ENST00000547614.5:n.459G>A | ||
| ENST00000548650.1:n.283G>A | ||
| ENST00000549139.5:n.337G>A | ||
| ENST00000549328.1:c.346G>A | ENSP00000447899.1:p.Glu116Lys | |
| ENST00000550102.5:c.319G>A | ENSP00000449243.1:p.Glu107Lys | |
| ENST00000551981.5:n.363G>A | ||
| NM_001083314.3:c.326G>A | NP_001076783.1:p.Arg109Gln | |
| NM_002768.4:c.346G>A | NP_002759.2:p.Glu116Lys | |
| NR_046418.2:n.543G>A | ||
| XM_011523099.1:c.671G>A | XP_011521401.1:p.Arg224Gln | |
| NM_002768.5:c.346G>A MANE Select | NP_002759.2:p.Glu116Lys | |
| NM_001083314.4:c.326G>A | NP_001076783.1:p.Arg109Gln | |
| NR_046418.3:n.466G>A |