Linked Data
ClinVar Variation Id:
372141
ClinVar RCV Id:
RCV000412523
dbSNP Id:
rs1057517663
gnomAD v4:
5-151664183-C-T
COSMIC:
COSM3852935
PubMed:
PMID:26027498
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151664183C>T , CM000667.2:g.151664183C>T | GRCh38 |
| NC_000005.9:g.151043744C>T , CM000667.1:g.151043744C>T | GRCh37 |
| NC_000005.8:g.151023937C>T | NCBI36 |
| NG_042174.1:g.27872G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000231061.9:c.787G>A MANE Select | ENSP00000231061.4:p.Glu263Lys | |
| ENST00000231061.8:c.787G>A | ENSP00000231061.4:p.Glu263Lys | |
| ENST00000520687.1:n.390G>A | ||
| NM_001309443.1:c.784G>A | NP_001296372.1:p.Glu262Lys | |
| NM_001309444.1:c.787G>A | NP_001296373.1:p.Glu263Lys | |
| NM_003118.3:c.787G>A | NP_003109.1:p.Glu263Lys | |
| NM_003118.4:c.787G>A MANE Select | NP_003109.1:p.Glu263Lys | |
| NM_001309443.2:c.784G>A | NP_001296372.1:p.Glu262Lys | |
| NM_001309444.2:c.787G>A | NP_001296373.1:p.Glu263Lys |