Linked Data
dbSNP Id:
rs141228868
ExAC:
22:19960455 C / G
gnomAD v2:
22-19960455-C-G
gnomAD v4:
22-19972932-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19972932C>G , CM000684.2:g.19972932C>G | GRCh38 |
| NC_000022.10:g.19960455C>G , CM000684.1:g.19960455C>G | GRCh37 |
| NC_000022.9:g.18340455C>G | NCBI36 |
| NG_023326.1:g.48855G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263207.8:c.2543G>C MANE Select | ENSP00000263207.3:p.Arg848Pro | |
| ENST00000263207.7:c.2543G>C | ENSP00000263207.3:p.Arg848Pro | |
| ENST00000401994.5:c.2354G>C | ENSP00000384341.1:p.Arg785Pro | |
| ENST00000406259.1:c.2525G>C | ENSP00000385444.1:p.Arg842Pro | |
| ENST00000406522.5:c.2336G>C | ENSP00000384732.1:p.Arg779Pro | |
| ENST00000495096.5:n.1465G>C | ||
| NM_001670.2:c.2543G>C | NP_001661.1:p.Arg848Pro | |
| XM_005261242.1:c.2525G>C | XP_005261299.1:p.Arg842Pro | |
| XM_005261243.3:c.2525G>C | XP_005261300.1:p.Arg842Pro | |
| XM_005261244.3:c.2525G>C | XP_005261301.1:p.Arg842Pro | |
| XM_006724243.1:c.2543G>C | XP_006724306.1:p.Arg848Pro | |
| XM_006724245.2:c.2543G>C | XP_006724308.1:p.Arg848Pro | |
| XM_006724246.2:c.2297G>C | XP_006724309.1:p.Arg766Pro | |
| XM_006724247.2:c.2354G>C | XP_006724310.1:p.Arg785Pro | |
| XM_006724248.2:c.2336G>C | XP_006724311.1:p.Arg779Pro | |
| XM_011530179.1:c.2510G>C | XP_011528481.1:p.Arg837Pro | |
| XM_011530180.1:c.2543G>C | XP_011528482.1:p.Arg848Pro | |
| XM_011530182.1:c.1109G>C | XP_011528484.1:p.Arg370Pro | |
| XM_011530183.1:c.1091G>C | XP_011528485.1:p.Arg364Pro | |
| XR_937863.1:n.2630G>C | ||
| XR_937864.1:n.2630G>C | ||
| XM_005261242.3:c.2525G>C | XP_005261299.1:p.Arg842Pro | |
| XM_005261243.4:c.2525G>C | XP_005261300.1:p.Arg842Pro | |
| XM_005261244.4:c.2525G>C | XP_005261301.1:p.Arg842Pro | |
| XM_006724243.3:c.2543G>C | XP_006724306.1:p.Arg848Pro | |
| XM_006724245.3:c.2543G>C | XP_006724308.1:p.Arg848Pro | |
| XM_006724246.4:c.2297G>C | XP_006724309.1:p.Arg766Pro | |
| XM_006724247.4:c.2354G>C | XP_006724310.1:p.Arg785Pro | |
| XM_006724248.4:c.2336G>C | XP_006724311.1:p.Arg779Pro | |
| XM_011530179.3:c.2510G>C | XP_011528481.1:p.Arg837Pro | |
| XM_011530182.3:c.1109G>C | XP_011528484.1:p.Arg370Pro | |
| XM_011530183.3:c.1091G>C | XP_011528485.1:p.Arg364Pro | |
| XM_024452249.1:c.2297G>C | XP_024308017.1:p.Arg766Pro | |
| XR_937863.2:n.2630G>C | ||
| NM_001670.3:c.2543G>C MANE Select | NP_001661.1:p.Arg848Pro |