Linked Data
ClinVar Variation Id:
495818
ClinVar RCV Id:
RCV000589929
dbSNP Id:
rs1354030520
gnomAD v2:
13-48954210-C-T
gnomAD v4:
13-48380074-C-T
COSMIC:
COSM29529
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48380074C>T , CM000675.2:g.48380074C>T | GRCh38 |
| NC_000013.10:g.48954210C>T , CM000675.1:g.48954210C>T | GRCh37 |
| NC_000013.9:g.47852211C>T | NCBI36 |
| NG_009009.1:g.81328C>T , LRG_517:g.81328C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1411C>T MANE Select | ENSP00000267163.4:p.Gln471Ter | |
| ENST00000650461.1:c.1411C>T | ENSP00000497193.1:p.Gln471Ter | |
| ENST00000267163.4:c.1411C>T | ENSP00000267163.4:p.Gln471Ter | |
| NM_000321.2:c.1411C>T , LRG_517t1:c.1411C>T | NP_000312.2:p.Gln471Ter | |
| XM_011535171.1:c.1150C>T | XP_011533473.1:p.Gln384Ter | |
| XM_011535171.2:c.1150C>T | XP_011533473.1:p.Gln384Ter | |
| NM_000321.3:c.1411C>T MANE Select | NP_000312.2:p.Gln471Ter |