Linked Data
dbSNP Id:
rs758107924
ExAC:
22:19960505 G / C
gnomAD v2:
22-19960505-G-C
gnomAD v3:
22-19972982-G-C
gnomAD v4:
22-19972982-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19972982G>C , CM000684.2:g.19972982G>C | GRCh38 |
| NC_000022.10:g.19960505G>C , CM000684.1:g.19960505G>C | GRCh37 |
| NC_000022.9:g.18340505G>C | NCBI36 |
| NG_023326.1:g.48805C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263207.8:c.2493C>G MANE Select | ENSP00000263207.3:p.Ser831Arg | |
| ENST00000263207.7:c.2493C>G | ENSP00000263207.3:p.Ser831Arg | |
| ENST00000401994.5:c.2304C>G | ENSP00000384341.1:p.Ser768Arg | |
| ENST00000406259.1:c.2475C>G | ENSP00000385444.1:p.Ser825Arg | |
| ENST00000406522.5:c.2286C>G | ENSP00000384732.1:p.Ser762Arg | |
| ENST00000495096.5:n.1415C>G | ||
| NM_001670.2:c.2493C>G | NP_001661.1:p.Ser831Arg | |
| XM_005261242.1:c.2475C>G | XP_005261299.1:p.Ser825Arg | |
| XM_005261243.3:c.2475C>G | XP_005261300.1:p.Ser825Arg | |
| XM_005261244.3:c.2475C>G | XP_005261301.1:p.Ser825Arg | |
| XM_006724243.1:c.2493C>G | XP_006724306.1:p.Ser831Arg | |
| XM_006724245.2:c.2493C>G | XP_006724308.1:p.Ser831Arg | |
| XM_006724246.2:c.2247C>G | XP_006724309.1:p.Ser749Arg | |
| XM_006724247.2:c.2304C>G | XP_006724310.1:p.Ser768Arg | |
| XM_006724248.2:c.2286C>G | XP_006724311.1:p.Ser762Arg | |
| XM_011530179.1:c.2460C>G | XP_011528481.1:p.Ser820Arg | |
| XM_011530180.1:c.2493C>G | XP_011528482.1:p.Ser831Arg | |
| XM_011530182.1:c.1059C>G | XP_011528484.1:p.Ser353Arg | |
| XM_011530183.1:c.1041C>G | XP_011528485.1:p.Ser347Arg | |
| XR_937863.1:n.2580C>G | ||
| XR_937864.1:n.2580C>G | ||
| XM_005261242.3:c.2475C>G | XP_005261299.1:p.Ser825Arg | |
| XM_005261243.4:c.2475C>G | XP_005261300.1:p.Ser825Arg | |
| XM_005261244.4:c.2475C>G | XP_005261301.1:p.Ser825Arg | |
| XM_006724243.3:c.2493C>G | XP_006724306.1:p.Ser831Arg | |
| XM_006724245.3:c.2493C>G | XP_006724308.1:p.Ser831Arg | |
| XM_006724246.4:c.2247C>G | XP_006724309.1:p.Ser749Arg | |
| XM_006724247.4:c.2304C>G | XP_006724310.1:p.Ser768Arg | |
| XM_006724248.4:c.2286C>G | XP_006724311.1:p.Ser762Arg | |
| XM_011530179.3:c.2460C>G | XP_011528481.1:p.Ser820Arg | |
| XM_011530182.3:c.1059C>G | XP_011528484.1:p.Ser353Arg | |
| XM_011530183.3:c.1041C>G | XP_011528485.1:p.Ser347Arg | |
| XM_024452249.1:c.2247C>G | XP_024308017.1:p.Ser749Arg | |
| XR_937863.2:n.2580C>G | ||
| NM_001670.3:c.2493C>G MANE Select | NP_001661.1:p.Ser831Arg |