Linked Data
ClinVar Variation Id:
2192606
ClinVar RCV Id:
RCV002607561
dbSNP Id:
rs139082238
ExAC:
19:36220996 C / T
gnomAD v2:
19-36220996-C-T
gnomAD v3:
19-35730095-C-T
gnomAD v4:
19-35730095-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35730095C>T , CM000681.2:g.35730095C>T | GRCh38 |
| NC_000019.9:g.36220996C>T , CM000681.1:g.36220996C>T | GRCh37 |
| NC_000019.8:g.40912836C>T | NCBI36 |
| NG_052906.1:g.17077C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673918.2:c.4980C>T | ENSP00000501283.1:p.Cys1660= | |
| ENST00000674114.2:c.2587C>T | ENSP00000501039.2:n.2587C>T | |
| ENST00000684977.1:c.264C>T | ENSP00000509384.1:p.Cys88= | |
| ENST00000685168.1:c.472C>T | ||
| ENST00000689544.1:n.199C>T | ||
| ENST00000691421.1:c.267C>T | ENSP00000508674.1:p.Cys89= | |
| ENST00000691855.1:c.4588C>T | ||
| ENST00000692961.1:c.5046C>T | ENSP00000509289.1:p.Cys1682= | |
| ENST00000420124.4:c.5046C>T MANE Select | ENSP00000398837.2:p.Cys1682= | |
| ENST00000673918.1:c.4980C>T | ENSP00000501283.1:p.Cys1660= | |
| ENST00000674114.1:c.2368C>T | ||
| ENST00000420124.2:c.5046C>T | ENSP00000398837.1:p.Cys1682= | |
| NM_014727.2:c.5046C>T | NP_055542.1:p.Cys1682= | |
| XM_011527561.1:c.4980C>T | XP_011525863.1:p.Cys1660= | |
| XM_011527562.1:c.5046C>T | XP_011525864.1:p.Cys1682= | |
| XM_011527563.1:c.4770C>T | XP_011525865.1:p.Cys1590= | |
| XM_011527561.2:c.4482C>T | XP_011525863.2:p.Cys1494= | |
| XM_011527562.2:c.5046C>T | XP_011525864.1:p.Cys1682= | |
| XM_017027544.1:c.5046C>T | XP_016883033.1:p.Cys1682= | |
| XM_017027545.1:c.4482C>T | XP_016883034.1:p.Cys1494= | |
| XM_017027546.1:c.2010C>T | XP_016883035.1:p.Cys670= | |
| NM_014727.3:c.5046C>T MANE Select | NP_055542.1:p.Cys1682= |