Linked Data
ClinVar Variation Id:
374875
ClinVar RCV Id:
RCV000415564
dbSNP Id:
rs1057519283
PubMed:
PMID:27992417
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35721037C>T , CM000681.2:g.35721037C>T | GRCh38 |
| NC_000019.9:g.36211939C>T , CM000681.1:g.36211939C>T | GRCh37 |
| NC_000019.8:g.40903779C>T | NCBI36 |
| NG_052906.1:g.8019C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673918.2:c.1624C>T | ENSP00000501283.1:p.Arg542Ter | |
| ENST00000687718.1:c.*1191C>T | ENSP00000510535.1:n.*1191C>T | |
| ENST00000689139.1:c.1188C>T | ||
| ENST00000691855.1:c.1188C>T | ||
| ENST00000692961.1:c.1690C>T | ENSP00000509289.1:p.Arg564Ter | |
| ENST00000420124.4:c.1690C>T MANE Select | ENSP00000398837.2:p.Arg564Ter | |
| ENST00000673918.1:c.1624C>T | ENSP00000501283.1:p.Arg542Ter | |
| ENST00000420124.2:c.1690C>T | ENSP00000398837.1:p.Arg564Ter | |
| ENST00000606995.2:n.39+97C>T | ||
| NM_014727.2:c.1690C>T | NP_055542.1:p.Arg564Ter | |
| XM_011527561.1:c.1624C>T | XP_011525863.1:p.Arg542Ter | |
| XM_011527562.1:c.1690C>T | XP_011525864.1:p.Arg564Ter | |
| XM_011527563.1:c.1690C>T | XP_011525865.1:p.Arg564Ter | |
| XR_935878.1:n.1714C>T | ||
| XM_011527561.2:c.1126C>T | XP_011525863.2:p.Arg376Ter | |
| XM_011527562.2:c.1690C>T | XP_011525864.1:p.Arg564Ter | |
| XM_017027544.1:c.1690C>T | XP_016883033.1:p.Arg564Ter | |
| XM_017027545.1:c.1126C>T | XP_016883034.1:p.Arg376Ter | |
| XR_935878.2:n.1891C>T | ||
| NM_014727.3:c.1690C>T MANE Select | NP_055542.1:p.Arg564Ter |