Linked Data
dbSNP Id:
rs754418190
ExAC:
21:19653519 T / G
gnomAD v2:
21-19653519-T-G
gnomAD v4:
21-18281202-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.18281202T>G , CM000683.2:g.18281202T>G | GRCh38 |
| NC_000021.8:g.19653519T>G , CM000683.1:g.19653519T>G | GRCh37 |
| NC_000021.7:g.18575390T>G | NCBI36 |
| NG_012207.1:g.127452A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284885.8:c.2506A>C MANE Select | ENSP00000284885.3:p.Lys836Gln | |
| ENST00000284885.7:c.2506A>C | ENSP00000284885.3:p.Lys836Gln | |
| NM_002772.2:c.2506A>C | NP_002763.2:p.Lys836Gln | |
| XM_011529654.1:c.2641A>C | XP_011527956.1:p.Lys881Gln | |
| XM_011529655.1:c.2641A>C | XP_011527957.1:p.Lys881Gln | |
| XM_011529656.1:c.2641A>C | XP_011527958.1:p.Lys881Gln | |
| XM_011529657.1:c.2596A>C | XP_011527959.1:p.Lys866Gln | |
| XM_011529658.1:c.2560A>C | XP_011527960.1:p.Lys854Gln | |
| XM_011529659.1:c.2551A>C | XP_011527961.1:p.Lys851Gln | |
| XM_011529654.2:c.2641A>C | XP_011527956.1:p.Lys881Gln | |
| XM_011529656.2:c.2641A>C | XP_011527958.1:p.Lys881Gln | |
| XM_011529657.2:c.2596A>C | XP_011527959.1:p.Lys866Gln | |
| XM_011529658.2:c.2560A>C | XP_011527960.1:p.Lys854Gln | |
| NM_002772.3:c.2506A>C MANE Select | NP_002763.3:p.Lys836Gln |