Linked Data
ClinVar Variation Id:
177932
ClinVar RCV Id:
RCV000154592
dbSNP Id:
rs190218019
gnomAD v2:
12-25403851-G-T
gnomAD v3:
12-25250917-G-T
gnomAD v4:
12-25250917-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25250917G>T , CM000674.2:g.25250917G>T | GRCh38 |
| NC_000012.11:g.25403851G>T , CM000674.1:g.25403851G>T | GRCh37 |
| NC_000012.10:g.25295118G>T | NCBI36 |
| NG_007524.1:g.5004C>A | |
| NG_007524.2:g.5087C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556131.2:c.-178C>A | ENSP00000451856.1:n.-178C>A | |
| ENST00000557334.6:c.-178C>A | ENSP00000452512.1:n.-178C>A | |
| ENST00000685328.1:c.-165C>A | ENSP00000508921.1:n.-165C>A | |
| ENST00000686969.1:c.-165C>A | ENSP00000510479.1:n.-165C>A | |
| ENST00000687356.1:c.-178C>A | ENSP00000510511.1:n.-178C>A | |
| ENST00000690804.1:c.-178C>A | ENSP00000508568.1:n.-178C>A | |
| ENST00000692768.1:c.-254C>A | ENSP00000510254.1:n.-254C>A | |
| ENST00000256078.10:c.-178C>A MANE Plus Clinical | ENSP00000256078.5:n.-178C>A | |
| ENST00000311936.8:c.-178C>A MANE Select | ENSP00000308495.3:n.-178C>A | |
| ENST00000311936.7:c.-178C>A | ENSP00000308495.3:n.-178C>A | |
| ENST00000556131.1:c.-165C>A | ENSP00000451856.1:n.-165C>A | |
| ENST00000557334.5:c.-178C>A | ENSP00000452512.1:n.-178C>A | |
| NM_004985.4:c.-178C>A | NP_004976.2:n.-178C>A | |
| NM_033360.3:c.-178C>A | NP_203524.1:n.-178C>A | |
| XM_006719069.4:c.-165C>A | XP_006719132.1:n.-165C>A | |
| XM_011520653.3:c.-165C>A | XP_011518955.1:n.-165C>A | |
| NM_001369786.1:c.-165C>A | NP_001356715.1:n.-165C>A | |
| NM_001369787.1:c.-165C>A | NP_001356716.1:n.-165C>A | |
| NM_004985.5:c.-178C>A MANE Select | NP_004976.2:n.-178C>A | |
| NM_033360.4:c.-178C>A MANE Plus Clinical | NP_203524.1:n.-178C>A |