Linked Data
ClinVar Variation Id:
3130000
ClinVar RCV Id:
RCV004418345
dbSNP Id:
rs114219025
ExAC:
22:19959919 C / A
gnomAD v2:
22-19959919-C-A
gnomAD v3:
22-19972396-C-A
gnomAD v4:
22-19972396-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19972396C>A , CM000684.2:g.19972396C>A | GRCh38 |
| NC_000022.10:g.19959919C>A , CM000684.1:g.19959919C>A | GRCh37 |
| NC_000022.9:g.18339919C>A | NCBI36 |
| NG_023326.1:g.49391G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263207.8:c.2657G>T MANE Select | ENSP00000263207.3:p.Gly886Val | |
| ENST00000263207.7:c.2657G>T | ENSP00000263207.3:p.Gly886Val | |
| ENST00000401994.5:c.2468G>T | ENSP00000384341.1:p.Gly823Val | |
| ENST00000406259.1:c.2639G>T | ENSP00000385444.1:p.Gly880Val | |
| ENST00000406522.5:c.2450G>T | ENSP00000384732.1:p.Gly817Val | |
| ENST00000495096.5:n.1579G>T | ||
| NM_001670.2:c.2657G>T | NP_001661.1:p.Gly886Val | |
| XM_005261242.1:c.2639G>T | XP_005261299.1:p.Gly880Val | |
| XM_005261243.3:c.2639G>T | XP_005261300.1:p.Gly880Val | |
| XM_005261244.3:c.2639G>T | XP_005261301.1:p.Gly880Val | |
| XM_006724243.1:c.2657G>T | XP_006724306.1:p.Gly886Val | |
| XM_006724245.2:c.2657G>T | XP_006724308.1:p.Gly886Val | |
| XM_006724246.2:c.2411G>T | XP_006724309.1:p.Gly804Val | |
| XM_006724247.2:c.2468G>T | XP_006724310.1:p.Gly823Val | |
| XM_006724248.2:c.2450G>T | XP_006724311.1:p.Gly817Val | |
| XM_011530179.1:c.2624G>T | XP_011528481.1:p.Gly875Val | |
| XM_011530180.1:c.2657G>T | XP_011528482.1:p.Gly886Val | |
| XM_011530182.1:c.1223G>T | XP_011528484.1:p.Gly408Val | |
| XM_011530183.1:c.1205G>T | XP_011528485.1:p.Gly402Val | |
| XR_937863.1:n.2744G>T | ||
| XR_937864.1:n.2744G>T | ||
| XM_005261242.3:c.2639G>T | XP_005261299.1:p.Gly880Val | |
| XM_005261243.4:c.2639G>T | XP_005261300.1:p.Gly880Val | |
| XM_005261244.4:c.2639G>T | XP_005261301.1:p.Gly880Val | |
| XM_006724243.3:c.2657G>T | XP_006724306.1:p.Gly886Val | |
| XM_006724245.3:c.2657G>T | XP_006724308.1:p.Gly886Val | |
| XM_006724246.4:c.2411G>T | XP_006724309.1:p.Gly804Val | |
| XM_006724247.4:c.2468G>T | XP_006724310.1:p.Gly823Val | |
| XM_006724248.4:c.2450G>T | XP_006724311.1:p.Gly817Val | |
| XM_011530179.3:c.2624G>T | XP_011528481.1:p.Gly875Val | |
| XM_011530182.3:c.1223G>T | XP_011528484.1:p.Gly408Val | |
| XM_011530183.3:c.1205G>T | XP_011528485.1:p.Gly402Val | |
| XM_024452249.1:c.2411G>T | XP_024308017.1:p.Gly804Val | |
| XR_937863.2:n.2744G>T | ||
| NM_001670.3:c.2657G>T MANE Select | NP_001661.1:p.Gly886Val |