Linked Data
ClinVar Variation Id:
263418
dbSNP Id:
rs199647257
gnomAD v2:
15-48788373-A-G
gnomAD v4:
15-48496176-A-G
COSMIC:
COSM1749182
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48496176A>G , CM000677.2:g.48496176A>G | GRCh38 |
| NC_000015.9:g.48788373A>G , CM000677.1:g.48788373A>G | GRCh37 |
| NC_000015.8:g.46575665A>G | NCBI36 |
| NG_008805.2:g.154613T>C , LRG_778:g.154613T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.2343T>C | ENSP00000453958.2:p.Cys781= | |
| ENST00000674301.2:c.2343T>C | ENSP00000501333.2:p.Cys781= | |
| ENST00000684448.1:n.1017T>C | ||
| ENST00000316623.10:c.2343T>C MANE Select | ENSP00000325527.5:p.Cys781= | |
| ENST00000316623.9:c.2343T>C | ENSP00000325527.5:p.Cys781= | |
| ENST00000537463.6:c.637-21526T>C | ENSP00000440294.2:n.637-21526T>C | |
| NM_000138.4:c.2343T>C , LRG_778t1:c.2343T>C | NP_000129.3:p.Cys781= | |
| NM_000138.5:c.2343T>C MANE Select | NP_000129.3:p.Cys781= |