Linked Data
ClinVar Variation Id:
1588896
ClinVar RCV Id:
RCV002098558
dbSNP Id:
rs2144675190
MyVariant Identifiers:
chr16:g.77369730G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.77335833G>A , CM000678.2:g.77335833G>A | GRCh38 |
| NC_000016.9:g.77369730G>A , CM000678.1:g.77369730G>A | GRCh37 |
| NC_000016.8:g.75927231G>A | NCBI36 |
| NG_031879.1:g.104282C>T | |
| NG_031879.2:g.104282C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282849.10:c.1782C>T MANE Select | ENSP00000282849.5:p.Ala594= | |
| ENST00000282849.9:c.1782C>T | ENSP00000282849.5:p.Ala594= | |
| NM_199355.2:c.1782C>T | NP_955387.1:p.Ala594= | |
| XM_006721158.2:c.-134C>T | XP_006721221.1:n.-134C>T | |
| XM_011522923.1:c.1266C>T | XP_011521225.1:p.Ala422= | |
| XM_011522924.1:c.1266C>T | XP_011521226.1:p.Ala422= | |
| NM_001326358.1:c.1266C>T | NP_001313287.1:p.Ala422= | |
| NM_199355.3:c.1782C>T | NP_955387.1:p.Ala594= | |
| XM_011522924.2:c.1266C>T | XP_011521226.1:p.Ala422= | |
| XM_017022988.2:c.546C>T | XP_016878477.1:p.Ala182= | |
| XM_017022989.1:c.546C>T | XP_016878478.1:p.Ala182= | |
| NM_199355.4:c.1782C>T MANE Select | NP_955387.1:p.Ala594= | |
| NM_001326358.2:c.1266C>T | NP_001313287.1:p.Ala422= |