Linked Data
ClinVar Variation Id:
2116072
ClinVar RCV Id:
RCV003024537
dbSNP Id:
rs759340321
ExAC:
21:19653372 T / G
gnomAD v2:
21-19653372-T-G
gnomAD v3:
21-18281055-T-G
gnomAD v4:
21-18281055-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.18281055T>G , CM000683.2:g.18281055T>G | GRCh38 |
| NC_000021.8:g.19653372T>G , CM000683.1:g.19653372T>G | GRCh37 |
| NC_000021.7:g.18575243T>G | NCBI36 |
| NG_012207.1:g.127599A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284885.8:c.2653A>C MANE Select | ENSP00000284885.3:p.Lys885Gln | |
| ENST00000284885.7:c.2653A>C | ENSP00000284885.3:p.Lys885Gln | |
| NM_002772.2:c.2653A>C | NP_002763.2:p.Lys885Gln | |
| XM_011529654.1:c.2788A>C | XP_011527956.1:p.Lys930Gln | |
| XM_011529655.1:c.2788A>C | XP_011527957.1:p.Lys930Gln | |
| XM_011529656.1:c.2788A>C | XP_011527958.1:p.Lys930Gln | |
| XM_011529657.1:c.2743A>C | XP_011527959.1:p.Lys915Gln | |
| XM_011529658.1:c.2707A>C | XP_011527960.1:p.Lys903Gln | |
| XM_011529659.1:c.2698A>C | XP_011527961.1:p.Lys900Gln | |
| XM_011529654.2:c.2788A>C | XP_011527956.1:p.Lys930Gln | |
| XM_011529656.2:c.2788A>C | XP_011527958.1:p.Lys930Gln | |
| XM_011529657.2:c.2743A>C | XP_011527959.1:p.Lys915Gln | |
| XM_011529658.2:c.2707A>C | XP_011527960.1:p.Lys903Gln | |
| NM_002772.3:c.2653A>C MANE Select | NP_002763.3:p.Lys885Gln |