Linked Data
ClinVar Variation Id:
39479
ClinVar RCV Id:
RCV000032675
dbSNP Id:
rs397514511
gnomAD v4:
11-72230799-C-T
PubMed:
PMID:23273569
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72230799C>T , CM000673.2:g.72230799C>T | GRCh38 |
| NC_000011.9:g.71941843C>T , CM000673.1:g.71941843C>T | GRCh37 |
| NC_000011.8:g.71619491C>T | NCBI36 |
| NG_023253.1:g.10962C>T | |
| NG_023253.2:g.10962C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298229.7:c.1201C>T MANE Select | ENSP00000298229.2:p.Arg401Trp | |
| ENST00000298229.6:c.1201C>T | ENSP00000298229.2:p.Arg401Trp | |
| ENST00000538339.1:n.82C>T | ||
| ENST00000538751.5:c.475C>T | ENSP00000444619.1:p.Arg159Trp | |
| ENST00000541756.5:c.1003C>T | ENSP00000446360.2:p.Arg335Trp | |
| NM_001567.3:c.1201C>T | NP_001558.3:p.Arg401Trp | |
| XM_005273978.3:c.1267C>T | XP_005274035.1:p.Arg423Trp | |
| XM_005273979.3:c.1267C>T | XP_005274036.1:p.Arg423Trp | |
| XM_011544999.1:c.1201C>T | XP_011543301.1:p.Arg401Trp | |
| XM_011545000.1:c.1267C>T | XP_011543302.1:p.Arg423Trp | |
| XM_005273979.4:c.1267C>T | XP_005274036.1:p.Arg423Trp | |
| XM_011544999.2:c.1201C>T | XP_011543301.1:p.Arg401Trp | |
| XM_024448501.1:c.1267C>T | XP_024304269.1:p.Arg423Trp | |
| XM_024448502.1:c.1267C>T | XP_024304270.1:p.Arg423Trp | |
| XM_024448503.1:c.1237C>T | XP_024304271.1:p.Arg413Trp | |
| XM_024448504.1:c.1201C>T | XP_024304272.1:p.Arg401Trp | |
| XM_024448505.1:c.1267C>T | XP_024304273.1:p.Arg423Trp | |
| NM_001567.4:c.1201C>T MANE Select | NP_001558.3:p.Arg401Trp |