Linked Data
ClinVar Variation Id:
382219
dbSNP Id:
rs546128998
gnomAD v2:
15-76603771-G-A
gnomAD v3:
15-76311430-G-A
gnomAD v4:
15-76311430-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.76311430G>A , CM000677.2:g.76311430G>A | GRCh38 |
| NC_000015.9:g.76603771G>A , CM000677.1:g.76603771G>A | GRCh37 |
| NC_000015.8:g.74390826G>A | NCBI36 |
| NG_007077.2:g.5040C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559386.2:c.-42C>T | ENSP00000452777.2:n.-42C>T | |
| ENST00000560044.6:c.-42C>T | ENSP00000452942.1:n.-42C>T | |
| ENST00000560595.6:c.-42C>T | ENSP00000453345.2:n.-42C>T | |
| ENST00000565910.6:c.-42C>T | ENSP00000458001.2:n.-42C>T | |
| ENST00000685118.1:c.-42C>T | ENSP00000509473.1:n.-42C>T | |
| ENST00000685548.1:c.-42C>T | ENSP00000510343.1:n.-42C>T | |
| ENST00000685863.1:c.-42C>T | ENSP00000509361.1:n.-42C>T | |
| ENST00000687293.1:c.-42C>T | ENSP00000509928.1:n.-42C>T | |
| ENST00000687975.1:c.-42C>T | ENSP00000508690.1:n.-42C>T | |
| ENST00000688154.1:c.-42C>T | ENSP00000510637.1:n.-42C>T | |
| ENST00000688389.1:c.-42C>T | ENSP00000510491.1:n.-42C>T | |
| ENST00000688637.1:n.40C>T | ||
| ENST00000689730.1:c.-42C>T | ENSP00000510006.1:n.-42C>T | |
| ENST00000689739.1:n.40C>T | ||
| ENST00000690610.1:c.-42C>T | ENSP00000510473.1:n.-42C>T | |
| ENST00000691021.1:c.-42C>T | ENSP00000510805.1:n.-42C>T | |
| ENST00000691695.1:c.-42C>T | ENSP00000509402.1:n.-42C>T | |
| ENST00000692691.1:c.-42C>T | ENSP00000508808.1:n.-42C>T | |
| ENST00000557943.6:c.-42C>T MANE Select | ENSP00000452762.1:n.-42C>T | |
| ENST00000267950.12:c.-42C>T | ENSP00000267950.8:n.-42C>T | |
| ENST00000557943.5:c.-42C>T | ENSP00000452762.1:n.-42C>T | |
| ENST00000560044.5:c.-42C>T | ENSP00000452942.1:n.-42C>T | |
| ENST00000560309.5:c.-42C>T | ENSP00000453753.1:n.-42C>T | |
| ENST00000560726.5:c.-593C>T | ENSP00000453098.1:n.-593C>T | |
| NM_000126.3:c.-42C>T | NP_000117.1:n.-42C>T | |
| NM_001127716.1:c.-42C>T | NP_001121188.1:n.-42C>T | |
| XR_931766.1:n.14C>T | ||
| XR_931766.3:n.40C>T | ||
| NM_000126.4:c.-42C>T MANE Select | NP_000117.1:n.-42C>T | |
| NM_001127716.2:c.-42C>T | NP_001121188.1:n.-42C>T |