Linked Data
ClinVar Variation Id:
897238
dbSNP Id:
rs1231549120
gnomAD v2:
2-203241274-A-G
gnomAD v3:
2-202376551-A-G
gnomAD v4:
2-202376551-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202376551A>G , CM000664.2:g.202376551A>G | GRCh38 |
| NC_000002.11:g.203241274A>G , CM000664.1:g.203241274A>G | GRCh37 |
| NC_000002.10:g.202949519A>G | NCBI36 |
| NG_009363.1:g.5225A>G , LRG_712:g.5225A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.-924A>G MANE Select | ENSP00000363708.4:n.-924A>G | |
| NM_001204.6:c.-924A>G , LRG_712t1:c.-924A>G | NP_001195.2:n.-924A>G | |
| XM_011511687.1:c.-924A>G | XP_011509989.1:n.-924A>G | |
| XM_011511688.1:c.-924A>G | XP_011509990.1:n.-924A>G | |
| NM_001204.7:c.-924A>G MANE Select | NP_001195.2:n.-924A>G |