Linked Data
dbSNP Id:
rs1241890919
gnomAD v2:
11-20660024-A-C
gnomAD v3:
11-20638478-A-C
gnomAD v4:
11-20638478-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20638478A>C , CM000673.2:g.20638478A>C | GRCh38 |
| NC_000011.9:g.20660024A>C , CM000673.1:g.20660024A>C | GRCh37 |
| NC_000011.8:g.20616600A>C | NCBI36 |
| NG_013086.1:g.44079A>C | |
| NG_013086.2:g.44079A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525748.6:c.1889A>C MANE Select | ENSP00000434364.2:p.Gln630Pro | |
| ENST00000298923.11:c.*1186A>C | ENSP00000298923.7:n.*1186A>C | |
| ENST00000525748.5:c.1889A>C | ENSP00000434364.1:p.Gln630Pro | |
| ENST00000528440.1:n.420A>C | ||
| NM_004211.3:c.1889A>C | NP_004202.2:p.Gln630Pro | |
| XM_005253225.1:c.1187A>C | XP_005253282.1:p.Gln396Pro | |
| XM_011520473.1:c.1889A>C | XP_011518775.1:p.Gln630Pro | |
| NM_001318369.1:c.1187A>C | NP_001305298.1:p.Gln396Pro | |
| NM_004211.4:c.1889A>C | NP_004202.3:p.Gln630Pro | |
| XM_017018544.2:c.1013A>C | XP_016874033.1:p.Gln338Pro | |
| XM_017018545.2:c.848A>C | XP_016874034.1:p.Gln283Pro | |
| NM_001318369.2:c.1187A>C | NP_001305298.1:p.Gln396Pro | |
| NM_004211.5:c.1889A>C MANE Select | NP_004202.4:p.Gln630Pro |