Linked Data
dbSNP Id:
rs375174769
ExAC:
22:19959953 A / C
gnomAD v2:
22-19959953-A-C
gnomAD v3:
22-19972430-A-C
gnomAD v4:
22-19972430-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19972430A>C , CM000684.2:g.19972430A>C | GRCh38 |
| NC_000022.10:g.19959953A>C , CM000684.1:g.19959953A>C | GRCh37 |
| NC_000022.9:g.18339953A>C | NCBI36 |
| NG_023326.1:g.49357T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263207.8:c.2642-19T>G MANE Select | ENSP00000263207.3:n.2642-19T>G | |
| ENST00000263207.7:c.2642-19T>G | ENSP00000263207.3:n.2642-19T>G | |
| ENST00000401994.5:c.2453-19T>G | ENSP00000384341.1:n.2453-19T>G | |
| ENST00000406259.1:c.2624-19T>G | ENSP00000385444.1:n.2624-19T>G | |
| ENST00000406522.5:c.2435-19T>G | ENSP00000384732.1:n.2435-19T>G | |
| ENST00000495096.5:n.1564-19T>G | ||
| NM_001670.2:c.2642-19T>G | NP_001661.1:n.2642-19T>G | |
| XM_005261242.1:c.2624-19T>G | XP_005261299.1:n.2624-19T>G | |
| XM_005261243.3:c.2624-19T>G | XP_005261300.1:n.2624-19T>G | |
| XM_005261244.3:c.2624-19T>G | XP_005261301.1:n.2624-19T>G | |
| XM_006724243.1:c.2642-19T>G | XP_006724306.1:n.2642-19T>G | |
| XM_006724245.2:c.2642-19T>G | XP_006724308.1:n.2642-19T>G | |
| XM_006724246.2:c.2396-19T>G | XP_006724309.1:n.2396-19T>G | |
| XM_006724247.2:c.2453-19T>G | XP_006724310.1:n.2453-19T>G | |
| XM_006724248.2:c.2435-19T>G | XP_006724311.1:n.2435-19T>G | |
| XM_011530179.1:c.2609-19T>G | XP_011528481.1:n.2609-19T>G | |
| XM_011530180.1:c.2642-19T>G | XP_011528482.1:n.2642-19T>G | |
| XM_011530182.1:c.1208-19T>G | XP_011528484.1:n.1208-19T>G | |
| XM_011530183.1:c.1190-19T>G | XP_011528485.1:n.1190-19T>G | |
| XR_937863.1:n.2729-19T>G | ||
| XR_937864.1:n.2729-19T>G | ||
| XM_005261242.3:c.2624-19T>G | XP_005261299.1:n.2624-19T>G | |
| XM_005261243.4:c.2624-19T>G | XP_005261300.1:n.2624-19T>G | |
| XM_005261244.4:c.2624-19T>G | XP_005261301.1:n.2624-19T>G | |
| XM_006724243.3:c.2642-19T>G | XP_006724306.1:n.2642-19T>G | |
| XM_006724245.3:c.2642-19T>G | XP_006724308.1:n.2642-19T>G | |
| XM_006724246.4:c.2396-19T>G | XP_006724309.1:n.2396-19T>G | |
| XM_006724247.4:c.2453-19T>G | XP_006724310.1:n.2453-19T>G | |
| XM_006724248.4:c.2435-19T>G | XP_006724311.1:n.2435-19T>G | |
| XM_011530179.3:c.2609-19T>G | XP_011528481.1:n.2609-19T>G | |
| XM_011530182.3:c.1208-19T>G | XP_011528484.1:n.1208-19T>G | |
| XM_011530183.3:c.1190-19T>G | XP_011528485.1:n.1190-19T>G | |
| XM_024452249.1:c.2396-19T>G | XP_024308017.1:n.2396-19T>G | |
| XR_937863.2:n.2729-19T>G | ||
| NM_001670.3:c.2642-19T>G MANE Select | NP_001661.1:n.2642-19T>G |