Linked Data
ClinVar Variation Id:
17009
ClinVar RCV Id:
RCV000018533
RCV000146023
RCV000211779
RCV000255157
RCV000678885
RCV000515418
RCV001027826
RCV001196233
RCV001257564
RCV002286400
RCV004532385
dbSNP Id:
rs80338948
ExAC:
13:20763294 G / A
gnomAD v2:
13-20763294-G-A
gnomAD v3:
13-20189155-G-A
gnomAD v4:
13-20189155-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189155G>A , CM000675.2:g.20189155G>A | GRCh38 |
| NC_000013.10:g.20763294G>A , CM000675.1:g.20763294G>A | GRCh37 |
| NC_000013.9:g.19661294G>A | NCBI36 |
| NG_008358.1:g.8821C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.427C>T | ENSP00000372295.1:p.Arg143Trp | |
| ENST00000382848.5:c.427C>T MANE Select | ENSP00000372299.4:p.Arg143Trp | |
| ENST00000382844.1:c.427C>T | ENSP00000372295.1:p.Arg143Trp | |
| ENST00000382848.4:c.427C>T | ENSP00000372299.4:p.Arg143Trp | |
| NM_004004.5:c.427C>T | NP_003995.2:p.Arg143Trp | |
| XM_011535049.1:c.427C>T | XP_011533351.1:p.Arg143Trp | |
| XM_011535049.2:c.427C>T | XP_011533351.1:p.Arg143Trp | |
| NM_004004.6:c.427C>T MANE Select | NP_003995.2:p.Arg143Trp |