Linked Data
ClinVar Variation Id:
439639
dbSNP Id:
rs188624478
ExAC:
11:65640259 G / A
gnomAD v2:
11-65640259-G-A
gnomAD v3:
11-65872788-G-A
gnomAD v4:
11-65872788-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65872788G>A , CM000673.2:g.65872788G>A | GRCh38 |
| NC_000011.9:g.65640259G>A , CM000673.1:g.65640259G>A | GRCh37 |
| NC_000011.8:g.65396835G>A | NCBI36 |
| NG_012304.2:g.5147C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.-113C>T MANE Select | ENSP00000309953.6:n.-113C>T | |
| ENST00000307998.10:c.-113C>T | ENSP00000309953.6:n.-113C>T | |
| ENST00000527378.1:c.-7-427C>T | ENSP00000435963.1:n.-7-427C>T | |
| ENST00000531972.5:c.-113C>T | ENSP00000435295.1:n.-113C>T | |
| ENST00000533347.5:c.-113C>T | ENSP00000435823.1:n.-113C>T | |
| NM_016938.4:c.-113C>T | NP_058634.4:n.-113C>T | |
| NR_037718.1:n.147C>T | ||
| NM_016938.5:c.-113C>T MANE Select | NP_058634.4:n.-113C>T | |
| NR_037718.2:n.13C>T |