Linked Data
ClinVar Variation Id:
161846
ClinVar RCV Id:
RCV000149382
dbSNP Id:
rs193921069
gnomAD v3:
15-84621450-C-A
gnomAD v4:
15-84621450-C-A
COSMIC:
COSM5521423
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84621450C>A , CM000677.2:g.84621450C>A | GRCh38 |
| NC_000015.9:g.85164681C>A , CM000677.1:g.85164681C>A | GRCh37 |
| NC_000015.8:g.82965685C>A | NCBI36 |
| NG_047160.1:g.25465C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546148.6:c.1255C>A MANE Select | ENSP00000445451.1:p.Gln419Lys | |
| ENST00000327179.6:c.1252C>A | ENSP00000325123.6:p.Gln418Lys | |
| ENST00000358472.3:c.805C>A | ENSP00000351257.3:p.Gln269Lys | |
| ENST00000448803.6:c.1255C>A | ENSP00000410198.2:p.Gln419Lys | |
| ENST00000485222.2:c.577+678C>A | ENSP00000440004.1:n.577+678C>A | |
| ENST00000538076.5:c.577+678C>A | ENSP00000439132.1:n.577+678C>A | |
| ENST00000540894.5:c.1255C>A | ENSP00000441855.1:p.Gln419Lys | |
| ENST00000541040.5:c.577+678C>A | ENSP00000441342.1:n.577+678C>A | |
| ENST00000546148.5:c.1255C>A | ENSP00000445451.1:p.Gln419Lys | |
| NM_181877.3:c.1255C>A | NP_870992.2:p.Gln419Lys | |
| XM_005254935.2:c.1255C>A | XP_005254992.1:p.Gln419Lys | |
| XM_006720596.2:c.805C>A | XP_006720659.1:p.Gln269Lys | |
| XM_011521745.1:c.1348C>A | XP_011520047.1:p.Gln450Lys | |
| XM_011521746.1:c.1348C>A | XP_011520048.1:p.Gln450Lys | |
| XM_024449975.1:c.1255C>A | XP_024305743.1:p.Gln419Lys | |
| XM_024449976.1:c.805C>A | XP_024305744.1:p.Gln269Lys | |
| XM_024449978.1:c.1348C>A | XP_024305746.1:p.Gln450Lys | |
| NM_181877.4:c.1255C>A MANE Select | NP_870992.2:p.Gln419Lys |