Linked Data
dbSNP Id:
rs766302023
ExAC:
22:19960495 G / C
gnomAD v2:
22-19960495-G-C
gnomAD v3:
22-19972972-G-C
gnomAD v4:
22-19972972-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19972972G>C , CM000684.2:g.19972972G>C | GRCh38 |
| NC_000022.10:g.19960495G>C , CM000684.1:g.19960495G>C | GRCh37 |
| NC_000022.9:g.18340495G>C | NCBI36 |
| NG_023326.1:g.48815C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263207.8:c.2503C>G MANE Select | ENSP00000263207.3:p.Leu835Val | |
| ENST00000263207.7:c.2503C>G | ENSP00000263207.3:p.Leu835Val | |
| ENST00000401994.5:c.2314C>G | ENSP00000384341.1:p.Leu772Val | |
| ENST00000406259.1:c.2485C>G | ENSP00000385444.1:p.Leu829Val | |
| ENST00000406522.5:c.2296C>G | ENSP00000384732.1:p.Leu766Val | |
| ENST00000495096.5:n.1425C>G | ||
| NM_001670.2:c.2503C>G | NP_001661.1:p.Leu835Val | |
| XM_005261242.1:c.2485C>G | XP_005261299.1:p.Leu829Val | |
| XM_005261243.3:c.2485C>G | XP_005261300.1:p.Leu829Val | |
| XM_005261244.3:c.2485C>G | XP_005261301.1:p.Leu829Val | |
| XM_006724243.1:c.2503C>G | XP_006724306.1:p.Leu835Val | |
| XM_006724245.2:c.2503C>G | XP_006724308.1:p.Leu835Val | |
| XM_006724246.2:c.2257C>G | XP_006724309.1:p.Leu753Val | |
| XM_006724247.2:c.2314C>G | XP_006724310.1:p.Leu772Val | |
| XM_006724248.2:c.2296C>G | XP_006724311.1:p.Leu766Val | |
| XM_011530179.1:c.2470C>G | XP_011528481.1:p.Leu824Val | |
| XM_011530180.1:c.2503C>G | XP_011528482.1:p.Leu835Val | |
| XM_011530182.1:c.1069C>G | XP_011528484.1:p.Leu357Val | |
| XM_011530183.1:c.1051C>G | XP_011528485.1:p.Leu351Val | |
| XR_937863.1:n.2590C>G | ||
| XR_937864.1:n.2590C>G | ||
| XM_005261242.3:c.2485C>G | XP_005261299.1:p.Leu829Val | |
| XM_005261243.4:c.2485C>G | XP_005261300.1:p.Leu829Val | |
| XM_005261244.4:c.2485C>G | XP_005261301.1:p.Leu829Val | |
| XM_006724243.3:c.2503C>G | XP_006724306.1:p.Leu835Val | |
| XM_006724245.3:c.2503C>G | XP_006724308.1:p.Leu835Val | |
| XM_006724246.4:c.2257C>G | XP_006724309.1:p.Leu753Val | |
| XM_006724247.4:c.2314C>G | XP_006724310.1:p.Leu772Val | |
| XM_006724248.4:c.2296C>G | XP_006724311.1:p.Leu766Val | |
| XM_011530179.3:c.2470C>G | XP_011528481.1:p.Leu824Val | |
| XM_011530182.3:c.1069C>G | XP_011528484.1:p.Leu357Val | |
| XM_011530183.3:c.1051C>G | XP_011528485.1:p.Leu351Val | |
| XM_024452249.1:c.2257C>G | XP_024308017.1:p.Leu753Val | |
| XR_937863.2:n.2590C>G | ||
| NM_001670.3:c.2503C>G MANE Select | NP_001661.1:p.Leu835Val |