Linked Data
ClinVar Variation Id:
341063
ClinVar RCV Id:
RCV000376898
dbSNP Id:
rs56733822
gnomAD v2:
22-29999742-C-G
gnomAD v3:
22-29603753-C-G
gnomAD v4:
22-29603753-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29603753C>G , CM000684.2:g.29603753C>G | GRCh38 |
| NC_000022.10:g.29999742C>G , CM000684.1:g.29999742C>G | GRCh37 |
| NC_000022.9:g.28329742C>G | NCBI36 |
| NG_009057.1:g.5198C>G , LRG_511:g.5198C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361166.10:c.-246C>G | ENSP00000354529.6:n.-246C>G | |
| ENST00000673312.2:c.-246C>G | ENSP00000500186.2:n.-246C>G | |
| ENST00000338641.10:c.-246C>G MANE Select | ENSP00000344666.5:n.-246C>G | |
| ENST00000672461.1:c.-246C>G | ENSP00000500919.1:n.-246C>G | |
| ENST00000672805.1:c.-246C>G | ENSP00000500295.1:n.-246C>G | |
| ENST00000672896.1:c.-246C>G | ENSP00000500117.1:n.-246C>G | |
| ENST00000334961.11:c.-246C>G | ENSP00000335652.7:n.-246C>G | |
| ENST00000338641.8:c.-246C>G | ENSP00000344666.4:n.-246C>G | |
| ENST00000353887.8:c.-246C>G | ENSP00000340626.4:n.-246C>G | |
| ENST00000361452.8:c.-246C>G | ENSP00000354897.4:n.-246C>G | |
| ENST00000403435.5:c.-246C>G | ENSP00000384029.1:n.-246C>G | |
| ENST00000403999.7:c.-246C>G | ENSP00000384797.3:n.-246C>G | |
| ENST00000413209.6:c.-246C>G | ENSP00000409921.2:n.-246C>G | |
| NM_000268.3:c.-246C>G , LRG_511t1:c.-246C>G | NP_000259.1:n.-246C>G | |
| NM_016418.5:c.-246C>G , LRG_511t2:c.-246C>G | NP_057502.2:n.-246C>G | |
| NM_181825.2:c.-246C>G | NP_861546.1:n.-246C>G | |
| NM_181828.2:c.-246C>G | NP_861966.1:n.-246C>G | |
| NM_181829.2:c.-246C>G | NP_861967.1:n.-246C>G | |
| NM_181830.2:c.-246C>G | NP_861968.1:n.-246C>G | |
| NM_181831.2:c.-246C>G | NP_861969.1:n.-246C>G | |
| NM_181832.2:c.-246C>G | NP_861970.1:n.-246C>G | |
| NM_181833.2:c.-246C>G | NP_861971.1:n.-246C>G | |
| NR_156186.1:n.198C>G | ||
| NM_000268.4:c.-246C>G MANE Select | NP_000259.1:n.-246C>G | |
| NM_181825.3:c.-246C>G | NP_861546.1:n.-246C>G | |
| NM_181828.3:c.-246C>G | NP_861966.1:n.-246C>G | |
| NM_181829.3:c.-246C>G | NP_861967.1:n.-246C>G | |
| NM_181830.3:c.-246C>G | NP_861968.1:n.-246C>G | |
| NM_181831.3:c.-246C>G | NP_861969.1:n.-246C>G | |
| NM_181832.3:c.-246C>G | NP_861970.1:n.-246C>G | |
| NR_156186.2:n.121C>G | ||
| NM_181833.3:c.-246C>G | NP_861971.1:n.-246C>G |