Linked Data
ClinVar Variation Id:
919776
dbSNP Id:
rs750720912
ExAC:
15:48741088 G / A
gnomAD v2:
15-48741088-G-A
gnomAD v4:
15-48448891-G-A
COSMIC:
COSM3887080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48448891G>A , CM000677.2:g.48448891G>A | GRCh38 |
| NC_000015.9:g.48741088G>A , CM000677.1:g.48741088G>A | GRCh37 |
| NC_000015.8:g.46528380G>A | NCBI36 |
| NG_008805.2:g.201898C>T , LRG_778:g.201898C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5548C>T | ENSP00000453958.2:p.Arg1850Cys | |
| ENST00000674301.2:c.5548C>T | ENSP00000501333.2:p.Arg1850Cys | |
| ENST00000684448.1:n.4222C>T | ||
| ENST00000316623.10:c.5548C>T MANE Select | ENSP00000325527.5:p.Arg1850Cys | |
| ENST00000674301.1:c.547C>T | ENSP00000501333.1:p.Arg183Cys | |
| ENST00000316623.9:c.5548C>T | ENSP00000325527.5:p.Arg1850Cys | |
| ENST00000537463.6:c.*1311C>T | ENSP00000440294.2:n.*1311C>T | |
| ENST00000559133.5:c.855C>T | ||
| NM_000138.4:c.5548C>T , LRG_778t1:c.5548C>T | NP_000129.3:p.Arg1850Cys | |
| NM_000138.5:c.5548C>T MANE Select | NP_000129.3:p.Arg1850Cys |