Linked Data
ClinVar Variation Id:
388210
dbSNP Id:
rs372357778
ExAC:
22:40742526 C / G
gnomAD v2:
22-40742526-C-G
gnomAD v3:
22-40346522-C-G
gnomAD v4:
22-40346522-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40346522C>G , CM000684.2:g.40346522C>G | GRCh38 |
| NC_000022.10:g.40742526C>G , CM000684.1:g.40742526C>G | GRCh37 |
| NC_000022.9:g.39072472C>G | NCBI36 |
| NG_007993.1:g.5023C>G | |
| NG_007993.2:g.5023C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480775.3:c.-37C>G | ENSP00000485462.2:n.-37C>G | |
| ENST00000623632.4:c.-37C>G | ENSP00000485288.2:n.-37C>G | |
| ENST00000625194.4:c.-37C>G | ENSP00000485289.2:n.-37C>G | |
| ENST00000636714.1:c.-37C>G | ENSP00000490946.1:n.-37C>G | |
| ENST00000637666.2:c.-37C>G | ENSP00000489696.2:n.-37C>G | |
| ENST00000679723.1:c.-37C>G | ENSP00000505155.1:n.-37C>G | |
| ENST00000680444.1:c.-37C>G | ENSP00000505298.1:n.-37C>G | |
| ENST00000680978.1:c.-37C>G | ENSP00000505244.1:n.-37C>G | |
| ENST00000681159.1:n.23C>G | ||
| ENST00000342312.9:c.-37C>G | ENSP00000341429.6:n.-37C>G | |
| ENST00000466863.1:n.5C>G | ||
| ENST00000623063.3:c.-37C>G MANE Select | ENSP00000485525.1:n.-37C>G | |
| ENST00000623632.3:c.-37C>G | ENSP00000485288.1:n.-37C>G | |
| ENST00000624503.1:c.-37C>G | ENSP00000485073.1:n.-37C>G | |
| NM_000026.2:c.-37C>G | NP_000017.1:n.-37C>G | |
| NM_001123378.1:c.-37C>G | NP_001116850.1:n.-37C>G | |
| XM_011529976.1:c.-37C>G | XP_011528278.1:n.-37C>G | |
| XM_011529977.1:c.-37C>G | XP_011528279.1:n.-37C>G | |
| XM_011529978.1:c.-37C>G | XP_011528280.1:n.-37C>G | |
| XM_011529979.1:c.-37C>G | XP_011528281.1:n.-37C>G | |
| XM_011529980.1:c.-37C>G | XP_011528282.1:n.-37C>G | |
| XM_011529981.1:c.-377C>G | XP_011528283.1:n.-377C>G | |
| XR_937824.1:n.23C>G | ||
| XR_937825.1:n.23C>G | ||
| XR_937826.1:n.23C>G | ||
| NM_000026.3:c.-37C>G | NP_000017.1:n.-37C>G | |
| NM_001123378.2:c.-37C>G | NP_001116850.1:n.-37C>G | |
| NM_001317923.1:c.-174C>G | NP_001304852.1:n.-174C>G | |
| NM_001363840.1:c.-37C>G | NP_001350769.1:n.-37C>G | |
| NR_134256.1:n.23C>G | ||
| XM_011529977.3:c.-37C>G | XP_011528279.1:n.-37C>G | |
| XM_011529980.3:c.-37C>G | XP_011528282.1:n.-37C>G | |
| XM_017028636.1:c.-37C>G | XP_016884125.1:n.-37C>G | |
| XM_017028638.1:c.-377C>G | XP_016884127.1:n.-377C>G | |
| XM_024452166.1:c.-37C>G | XP_024307934.1:n.-37C>G | |
| XR_001755176.2:n.21C>G | ||
| XR_002958670.1:n.5C>G | ||
| XR_002958671.1:n.21C>G | ||
| XR_937825.3:n.21C>G | ||
| NM_000026.4:c.-37C>G MANE Select | NP_000017.1:n.-37C>G | |
| NM_001363840.2:c.-37C>G | NP_001350769.1:n.-37C>G | |
| NM_001123378.3:c.-37C>G | NP_001116850.1:n.-37C>G | |
| NM_001317923.2:c.-174C>G | NP_001304852.1:n.-174C>G | |
| NM_001363840.3:c.-37C>G | NP_001350769.1:n.-37C>G | |
| NR_134256.2:n.23C>G |