Linked Data
dbSNP Id:
rs753998506
ExAC:
15:48741074 T / C
gnomAD v2:
15-48741074-T-C
gnomAD v4:
15-48448877-T-C
COSMIC:
COSM3983020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48448877T>C , CM000677.2:g.48448877T>C | GRCh38 |
| NC_000015.9:g.48741074T>C , CM000677.1:g.48741074T>C | GRCh37 |
| NC_000015.8:g.46528366T>C | NCBI36 |
| NG_008805.2:g.201912A>G , LRG_778:g.201912A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5562A>G | ENSP00000453958.2:p.Gln1854= | |
| ENST00000674301.2:c.5562A>G | ENSP00000501333.2:p.Gln1854= | |
| ENST00000684448.1:n.4236A>G | ||
| ENST00000316623.10:c.5562A>G MANE Select | ENSP00000325527.5:p.Gln1854= | |
| ENST00000674301.1:c.561A>G | ENSP00000501333.1:p.Gln187= | |
| ENST00000316623.9:c.5562A>G | ENSP00000325527.5:p.Gln1854= | |
| ENST00000537463.6:c.*1325A>G | ENSP00000440294.2:n.*1325A>G | |
| ENST00000559133.5:c.869A>G | ||
| NM_000138.4:c.5562A>G , LRG_778t1:c.5562A>G | NP_000129.3:p.Gln1854= | |
| NM_000138.5:c.5562A>G MANE Select | NP_000129.3:p.Gln1854= |