Linked Data
dbSNP Id:
rs116731572
ExAC:
22:19960548 C / G
gnomAD v2:
22-19960548-C-G
gnomAD v3:
22-19973025-C-G
gnomAD v4:
22-19973025-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19973025C>G , CM000684.2:g.19973025C>G | GRCh38 |
| NC_000022.10:g.19960548C>G , CM000684.1:g.19960548C>G | GRCh37 |
| NC_000022.9:g.18340548C>G | NCBI36 |
| NG_023326.1:g.48762G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263207.8:c.2450G>C MANE Select | ENSP00000263207.3:p.Arg817Pro | |
| ENST00000263207.7:c.2450G>C | ENSP00000263207.3:p.Arg817Pro | |
| ENST00000401994.5:c.2261G>C | ENSP00000384341.1:p.Arg754Pro | |
| ENST00000406259.1:c.2432G>C | ENSP00000385444.1:p.Arg811Pro | |
| ENST00000406522.5:c.2243G>C | ENSP00000384732.1:p.Arg748Pro | |
| ENST00000495096.5:n.1372G>C | ||
| NM_001670.2:c.2450G>C | NP_001661.1:p.Arg817Pro | |
| XM_005261242.1:c.2432G>C | XP_005261299.1:p.Arg811Pro | |
| XM_005261243.3:c.2432G>C | XP_005261300.1:p.Arg811Pro | |
| XM_005261244.3:c.2432G>C | XP_005261301.1:p.Arg811Pro | |
| XM_006724243.1:c.2450G>C | XP_006724306.1:p.Arg817Pro | |
| XM_006724245.2:c.2450G>C | XP_006724308.1:p.Arg817Pro | |
| XM_006724246.2:c.2204G>C | XP_006724309.1:p.Arg735Pro | |
| XM_006724247.2:c.2261G>C | XP_006724310.1:p.Arg754Pro | |
| XM_006724248.2:c.2243G>C | XP_006724311.1:p.Arg748Pro | |
| XM_011530179.1:c.2417G>C | XP_011528481.1:p.Arg806Pro | |
| XM_011530180.1:c.2450G>C | XP_011528482.1:p.Arg817Pro | |
| XM_011530182.1:c.1016G>C | XP_011528484.1:p.Arg339Pro | |
| XM_011530183.1:c.998G>C | XP_011528485.1:p.Arg333Pro | |
| XR_937863.1:n.2537G>C | ||
| XR_937864.1:n.2537G>C | ||
| XM_005261242.3:c.2432G>C | XP_005261299.1:p.Arg811Pro | |
| XM_005261243.4:c.2432G>C | XP_005261300.1:p.Arg811Pro | |
| XM_005261244.4:c.2432G>C | XP_005261301.1:p.Arg811Pro | |
| XM_006724243.3:c.2450G>C | XP_006724306.1:p.Arg817Pro | |
| XM_006724245.3:c.2450G>C | XP_006724308.1:p.Arg817Pro | |
| XM_006724246.4:c.2204G>C | XP_006724309.1:p.Arg735Pro | |
| XM_006724247.4:c.2261G>C | XP_006724310.1:p.Arg754Pro | |
| XM_006724248.4:c.2243G>C | XP_006724311.1:p.Arg748Pro | |
| XM_011530179.3:c.2417G>C | XP_011528481.1:p.Arg806Pro | |
| XM_011530182.3:c.1016G>C | XP_011528484.1:p.Arg339Pro | |
| XM_011530183.3:c.998G>C | XP_011528485.1:p.Arg333Pro | |
| XM_024452249.1:c.2204G>C | XP_024308017.1:p.Arg735Pro | |
| XR_937863.2:n.2537G>C | ||
| NM_001670.3:c.2450G>C MANE Select | NP_001661.1:p.Arg817Pro |