Linked Data
ClinVar Variation Id:
16624
ClinVar RCV Id:
RCV000018103
dbSNP Id:
rs104894163
PubMed:
PMID:11389161
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8064037T>A , CM000672.2:g.8064037T>A | GRCh38 |
| NC_000010.10:g.8106000T>A , CM000672.1:g.8106000T>A | GRCh37 |
| NC_000010.9:g.8146006T>A | NCBI36 |
| NG_015859.1:g.14334T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346208.4:c.820T>A | ENSP00000341619.3:p.Trp274Arg | |
| ENST00000379328.9:c.823T>A MANE Select | ENSP00000368632.3:p.Trp275Arg | |
| ENST00000346208.3:c.820T>A | ENSP00000341619.3:p.Trp274Arg | |
| ENST00000379328.7:c.823T>A | ENSP00000368632.3:p.Trp275Arg | |
| ENST00000461472.1:n.443+5196T>A | ||
| NM_001002295.1:c.823T>A | NP_001002295.1:p.Trp275Arg | |
| NM_002051.2:c.820T>A | NP_002042.1:p.Trp274Arg | |
| XM_005252442.2:c.823T>A | XP_005252499.1:p.Trp275Arg | |
| XM_005252443.3:c.823T>A | XP_005252500.1:p.Trp275Arg | |
| XM_005252443.5:c.823T>A | XP_005252500.1:p.Trp275Arg | |
| NM_001002295.2:c.823T>A MANE Select | NP_001002295.1:p.Trp275Arg | |
| NM_002051.3:c.820T>A | NP_002042.1:p.Trp274Arg |