Linked Data
ClinVar Variation Id:
200142
ClinVar RCV Id:
RCV000181644
RCV000243821
RCV001190247
RCV002259318
RCV001852286
RCV002252025
RCV004537526
RCV003991468
dbSNP Id:
rs794728291
gnomAD v3:
15-48610787-C-G
gnomAD v4:
15-48610787-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48610787C>G , CM000677.2:g.48610787C>G | GRCh38 |
| NC_000015.9:g.48902984C>G , CM000677.1:g.48902984C>G | GRCh37 |
| NC_000015.8:g.46690276C>G | NCBI36 |
| NG_008805.2:g.40002G>C , LRG_778:g.40002G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.287G>C | ENSP00000453958.2:p.Arg96Thr | |
| ENST00000674301.2:c.287G>C | ENSP00000501333.2:p.Arg96Thr | |
| ENST00000316623.10:c.287G>C MANE Select | ENSP00000325527.5:p.Arg96Thr | |
| ENST00000316623.9:c.287G>C | ENSP00000325527.5:p.Arg96Thr | |
| ENST00000537463.6:c.287G>C | ENSP00000440294.2:p.Arg96Thr | |
| NM_000138.4:c.287G>C , LRG_778t1:c.287G>C | NP_000129.3:p.Arg96Thr | |
| NM_000138.5:c.287G>C MANE Select | NP_000129.3:p.Arg96Thr |