Linked Data
ClinVar Variation Id:
374877
ClinVar RCV Id:
RCV000415537
dbSNP Id:
rs1057519285
gnomAD v2:
19-36228163-C-T
gnomAD v4:
19-35737262-C-T
PubMed:
PMID:27992417
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35737262C>T , CM000681.2:g.35737262C>T | GRCh38 |
| NC_000019.9:g.36228163C>T , CM000681.1:g.36228163C>T | GRCh37 |
| NC_000019.8:g.40920003C>T | NCBI36 |
| NG_052906.1:g.24244C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000592092.2:n.2019C>T | ||
| ENST00000673918.2:c.7483C>T | ENSP00000501283.1:p.Arg2495Trp | |
| ENST00000674114.2:c.5090C>T | ENSP00000501039.2:n.5090C>T | |
| ENST00000689544.1:n.2790C>T | ||
| ENST00000689929.1:c.461C>T | ||
| ENST00000691855.1:c.7091C>T | ||
| ENST00000692961.1:c.*234C>T | ENSP00000509289.1:n.*234C>T | |
| ENST00000693161.1:c.213+276C>T | ||
| ENST00000693175.1:c.598C>T | ||
| ENST00000693677.1:c.1294C>T | ENSP00000509779.1:p.Arg432Trp | |
| ENST00000420124.4:c.7549C>T MANE Select | ENSP00000398837.2:p.Arg2517Trp | |
| ENST00000673918.1:c.7483C>T | ENSP00000501283.1:p.Arg2495Trp | |
| ENST00000674101.1:c.390C>T | ||
| ENST00000674114.1:c.4871C>T | ||
| ENST00000420124.2:c.7549C>T | ENSP00000398837.1:p.Arg2517Trp | |
| ENST00000585476.5:n.1944C>T | ||
| NM_014727.2:c.7549C>T | NP_055542.1:p.Arg2517Trp | |
| XM_011527561.1:c.7483C>T | XP_011525863.1:p.Arg2495Trp | |
| XM_011527562.1:c.7549C>T | XP_011525864.1:p.Arg2517Cys | |
| XM_011527563.1:c.7273C>T | XP_011525865.1:p.Arg2425Trp | |
| XM_011527561.2:c.6985C>T | XP_011525863.2:p.Arg2329Trp | |
| XM_011527562.2:c.7549C>T | XP_011525864.1:p.Arg2517Cys | |
| XM_017027544.1:c.7459C>T | XP_016883033.1:p.Arg2487Trp | |
| XM_017027545.1:c.6985C>T | XP_016883034.1:p.Arg2329Trp | |
| XM_017027546.1:c.4513C>T | XP_016883035.1:p.Arg1505Trp | |
| NM_014727.3:c.7549C>T MANE Select | NP_055542.1:p.Arg2517Trp |