Linked Data
ClinVar Variation Id:
402157
ClinVar RCV Id:
RCV000454278
dbSNP Id:
rs1060499746
gnomAD v4:
16-27481179-C-T
COSMIC:
COSM5546367
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.27481179C>T , CM000678.2:g.27481179C>T | GRCh38 |
| NC_000016.9:g.27492500C>T , CM000678.1:g.27492500C>T | GRCh37 |
| NC_000016.8:g.27400001C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356183.9:c.4096G>A MANE Select | ENSP00000348510.4:p.Glu1366Lys | |
| ENST00000356183.8:c.4096G>A | ENSP00000348510.4:p.Glu1366Lys | |
| ENST00000561623.5:c.4096G>A | ENSP00000455417.1:p.Glu1366Lys | |
| ENST00000564664.5:c.647-2648G>A | ENSP00000457476.1:n.647-2648G>A | |
| ENST00000566779.1:n.182G>A | ||
| ENST00000568569.1:c.476G>A | ||
| ENST00000569653.1:c.97-16770G>A | ||
| NM_001286242.1:c.4096G>A | NP_001273171.1:p.Glu1366Lys | |
| NM_001520.3:c.4096G>A | NP_001511.2:p.Glu1366Lys | |
| XM_011545813.1:c.4096G>A | XP_011544115.1:p.Glu1366Lys | |
| XM_011545814.1:c.4096G>A | XP_011544116.1:p.Glu1366Lys | |
| XM_011545815.1:c.3907G>A | XP_011544117.1:p.Glu1303Lys | |
| XM_017023188.2:c.3907G>A | XP_016878677.1:p.Glu1303Lys | |
| NM_001520.4:c.4096G>A MANE Select | NP_001511.2:p.Glu1366Lys | |
| NM_001286242.2:c.4096G>A | NP_001273171.1:p.Glu1366Lys |