Linked Data
ClinVar Variation Id:
905595
ClinVar RCV Id:
RCV001154213
dbSNP Id:
rs1264418120
gnomAD v4:
4-80072729-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80072729A>G , CM000666.2:g.80072729A>G | GRCh38 |
| NC_000004.11:g.80993883A>G , CM000666.1:g.80993883A>G | GRCh37 |
| NC_000004.10:g.81212907A>G | NCBI36 |
| NG_015987.1:g.5595T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403729.7:c.-169T>C MANE Select | ENSP00000385575.2:n.-169T>C | |
| ENST00000679571.1:c.-100T>C | ENSP00000506307.1:n.-100T>C | |
| ENST00000681115.1:c.-169T>C | ENSP00000505618.1:n.-169T>C | |
| ENST00000681710.1:c.-100T>C | ENSP00000505865.1:n.-100T>C | |
| ENST00000403729.6:c.-169T>C | ENSP00000385575.2:n.-169T>C | |
| ENST00000404191.5:c.-80+666T>C | ENSP00000384028.1:n.-80+666T>C | |
| ENST00000506286.1:n.630-1075T>C | ||
| ENST00000514959.1:n.248+6624T>C | ||
| NM_001145794.1:c.-169T>C | NP_001139266.1:n.-169T>C | |
| NM_001286780.1:c.-80+666T>C | NP_001273709.1:n.-80+666T>C | |
| NM_001286781.1:c.-100T>C | NP_001273710.1:n.-100T>C | |
| NM_058172.5:c.-169T>C | NP_477520.2:n.-169T>C | |
| XM_011531587.1:c.-80+666T>C | XP_011529889.1:n.-80+666T>C | |
| XM_011531587.3:c.-80+666T>C | XP_011529889.1:n.-80+666T>C | |
| NM_058172.6:c.-169T>C MANE Select | NP_477520.2:n.-169T>C | |
| NM_001286780.2:c.-80+666T>C | NP_001273709.1:n.-80+666T>C | |
| NM_001286781.2:c.-100T>C | NP_001273710.1:n.-100T>C | |
| NM_001145794.2:c.-169T>C | NP_001139266.1:n.-169T>C |