Linked Data
ClinVar Variation Id:
333629
dbSNP Id:
rs115604088
gnomAD v2:
2-203241529-G-A
gnomAD v3:
2-202376806-G-A
gnomAD v4:
2-202376806-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202376806G>A , CM000664.2:g.202376806G>A | GRCh38 |
| NC_000002.11:g.203241529G>A , CM000664.1:g.203241529G>A | GRCh37 |
| NC_000002.10:g.202949774G>A | NCBI36 |
| NG_009363.1:g.5480G>A , LRG_712:g.5480G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.-669G>A MANE Select | ENSP00000363708.4:n.-669G>A | |
| NM_001204.6:c.-669G>A , LRG_712t1:c.-669G>A | NP_001195.2:n.-669G>A | |
| XM_011511687.1:c.-669G>A | XP_011509989.1:n.-669G>A | |
| XM_011511688.1:c.-669G>A | XP_011509990.1:n.-669G>A | |
| NM_001204.7:c.-669G>A MANE Select | NP_001195.2:n.-669G>A |