Linked Data
ClinVar Variation Id:
3026729
ClinVar RCV Id:
RCV003887122
dbSNP Id:
rs1320999461
gnomAD v2:
19-36223685-C-T
gnomAD v4:
19-35732784-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35732784C>T , CM000681.2:g.35732784C>T | GRCh38 |
| NC_000019.9:g.36223685C>T , CM000681.1:g.36223685C>T | GRCh37 |
| NC_000019.8:g.40915525C>T | NCBI36 |
| NG_052906.1:g.19766C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.541C>T | ||
| ENST00000673918.2:c.6169C>T | ENSP00000501283.1:p.Arg2057Trp | |
| ENST00000674114.2:c.3776C>T | ENSP00000501039.2:n.3776C>T | |
| ENST00000684977.1:c.1453C>T | ENSP00000509384.1:p.Arg485Trp | |
| ENST00000689544.1:n.1388C>T | ||
| ENST00000691421.1:c.1456C>T | ENSP00000508674.1:p.Arg486Trp | |
| ENST00000691855.1:c.5777C>T | ||
| ENST00000692961.1:c.6235C>T | ENSP00000509289.1:p.Arg2079Trp | |
| ENST00000693677.1:c.704+455C>T | ENSP00000509779.1:n.704+455C>T | |
| ENST00000420124.4:c.6235C>T MANE Select | ENSP00000398837.2:p.Arg2079Trp | |
| ENST00000673918.1:c.6169C>T | ENSP00000501283.1:p.Arg2057Trp | |
| ENST00000674114.1:c.3557C>T | ||
| ENST00000420124.2:c.6235C>T | ENSP00000398837.1:p.Arg2079Trp | |
| NM_014727.2:c.6235C>T | NP_055542.1:p.Arg2079Trp | |
| XM_011527561.1:c.6169C>T | XP_011525863.1:p.Arg2057Trp | |
| XM_011527562.1:c.6235C>T | XP_011525864.1:p.Arg2079Trp | |
| XM_011527563.1:c.5959C>T | XP_011525865.1:p.Arg1987Trp | |
| XM_011527561.2:c.5671C>T | XP_011525863.2:p.Arg1891Trp | |
| XM_011527562.2:c.6235C>T | XP_011525864.1:p.Arg2079Trp | |
| XM_017027544.1:c.6235C>T | XP_016883033.1:p.Arg2079Trp | |
| XM_017027545.1:c.5671C>T | XP_016883034.1:p.Arg1891Trp | |
| XM_017027546.1:c.3199C>T | XP_016883035.1:p.Arg1067Trp | |
| NM_014727.3:c.6235C>T MANE Select | NP_055542.1:p.Arg2079Trp |