Linked Data
ClinVar Variation Id:
369327
ClinVar RCV Id:
RCV000344924
dbSNP Id:
rs34366347
gnomAD v2:
2-209130989-A-G
gnomAD v3:
2-208266265-A-G
gnomAD v4:
2-208266265-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208266265A>G , CM000664.2:g.208266265A>G | GRCh38 |
| NC_000002.11:g.209130989A>G , CM000664.1:g.209130989A>G | GRCh37 |
| NC_000002.10:g.208839234A>G | NCBI36 |
| NG_021188.1:g.4999A>G | |
| NG_023319.2:g.4810T>C , LRG_610:g.4810T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264380.9:c.-160A>G MANE Select | ENSP00000264380.4:n.-160A>G | |
| XM_011510779.1:c.-18A>G | XP_011509081.1:n.-18A>G | |
| XM_011510778.3:c.-160A>G | XP_011509080.1:n.-160A>G | |
| XM_011510779.2:c.-18A>G | XP_011509081.1:n.-18A>G | |
| XM_011510780.2:c.-160A>G | XP_011509082.1:n.-160A>G | |
| XM_011510781.3:c.-160A>G | XP_011509083.1:n.-160A>G | |
| XM_011510782.3:c.-160A>G | XP_011509084.1:n.-160A>G | |
| XM_011510783.3:c.-160A>G | XP_011509085.1:n.-160A>G | |
| XM_011510784.2:c.-160A>G | XP_011509086.1:n.-160A>G | |
| XM_011510785.3:c.-160A>G | XP_011509087.1:n.-160A>G | |
| XM_011510786.3:c.-160A>G | XP_011509088.1:n.-160A>G | |
| XM_011510792.3:c.-160A>G | XP_011509094.1:n.-160A>G | |
| XM_017003570.1:c.-160A>G | XP_016859059.1:n.-160A>G | |
| XM_017003573.1:c.-468A>G | XP_016859062.1:n.-468A>G | |
| NM_015040.4:c.-160A>G MANE Select | NP_055855.2:n.-160A>G | |
| NM_001178000.2:c.-160A>G | NP_001171471.1:n.-160A>G | |
| NM_152671.4:c.-160A>G | NP_689884.1:n.-160A>G |