Linked Data
ClinVar Variation Id:
341058
ClinVar RCV Id:
RCV000272888
dbSNP Id:
rs886057331
gnomAD v2:
22-29999586-A-G
gnomAD v3:
22-29603597-A-G
gnomAD v4:
22-29603597-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29603597A>G , CM000684.2:g.29603597A>G | GRCh38 |
| NC_000022.10:g.29999586A>G , CM000684.1:g.29999586A>G | GRCh37 |
| NC_000022.9:g.28329586A>G | NCBI36 |
| NG_009057.1:g.5042A>G , LRG_511:g.5042A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000672805.1:c.-402A>G | ENSP00000500295.1:n.-402A>G | |
| ENST00000338641.8:c.-402A>G | ENSP00000344666.4:n.-402A>G | |
| ENST00000403435.5:c.-402A>G | ENSP00000384029.1:n.-402A>G | |
| ENST00000413209.6:c.-402A>G | ENSP00000409921.2:n.-402A>G | |
| NM_000268.3:c.-402A>G , LRG_511t1:c.-402A>G | NP_000259.1:n.-402A>G | |
| NM_016418.5:c.-402A>G , LRG_511t2:c.-402A>G | NP_057502.2:n.-402A>G | |
| NM_181825.2:c.-402A>G | NP_861546.1:n.-402A>G | |
| NM_181828.2:c.-402A>G | NP_861966.1:n.-402A>G | |
| NM_181829.2:c.-402A>G | NP_861967.1:n.-402A>G | |
| NM_181830.2:c.-402A>G | NP_861968.1:n.-402A>G | |
| NM_181831.2:c.-402A>G | NP_861969.1:n.-402A>G | |
| NM_181832.2:c.-402A>G | NP_861970.1:n.-402A>G | |
| NM_181833.2:c.-402A>G | NP_861971.1:n.-402A>G | |
| NR_156186.1:n.42A>G |