Linked Data
ClinVar Variation Id:
206548
ClinVar RCV Id:
RCV000188603
RCV000633548
RCV001808470
RCV002247605
RCV003987434
RCV002317146
RCV003483565
dbSNP Id:
rs181860632
ExAC:
15:89862296 G / A
gnomAD v2:
15-89862296-G-A
gnomAD v3:
15-89319065-G-A
gnomAD v4:
15-89319065-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89319065G>A , CM000677.2:g.89319065G>A | GRCh38 |
| NC_000015.9:g.89862296G>A , CM000677.1:g.89862296G>A | GRCh37 |
| NC_000015.8:g.87663300G>A | NCBI36 |
| NG_008218.1:g.20731C>T | |
| NG_011736.1:g.80103G>A , LRG_500:g.80103G>A | |
| NG_008218.2:g.20731C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3139C>T | ENSP00000516154.1:p.Arg1047Trp | |
| ENST00000268124.11:c.3139C>T MANE Select | ENSP00000268124.5:p.Arg1047Trp | |
| ENST00000530292.3:c.2740C>T | ENSP00000432885.2:p.Arg914Trp | |
| ENST00000635986.2:c.*209C>T | ENSP00000490653.2:n.*209C>T | |
| ENST00000636530.1:n.99C>T | ||
| ENST00000636774.1:c.*1706C>T | ENSP00000489799.1:n.*1706C>T | |
| ENST00000637238.1:c.1948C>T | ENSP00000490756.1:n.1948C>T | |
| ENST00000637264.1:c.2211C>T | ||
| ENST00000666746.1:c.2716C>T | ||
| ENST00000672071.1:n.3337C>T | ||
| ENST00000672695.1:n.316C>T | ||
| ENST00000672923.2:n.3139C>T | ||
| ENST00000268124.9:c.3139C>T | ENSP00000268124.5:p.Arg1047Trp | |
| ENST00000442287.6:c.3139C>T | ENSP00000399851.2:p.Arg1047Trp | |
| ENST00000530292.2:c.223C>T | ENSP00000432885.1:p.Arg75Trp | |
| ENST00000631044.2:c.*2563C>T | ENSP00000486730.1:n.*2563C>T | |
| NM_001126131.1:c.3139C>T | NP_001119603.1:p.Arg1047Trp | |
| NM_002693.2:c.3139C>T | NP_002684.1:p.Arg1047Trp | |
| NM_001126131.2:c.3139C>T | NP_001119603.1:p.Arg1047Trp | |
| NM_002693.3:c.3139C>T MANE Select | NP_002684.1:p.Arg1047Trp |