Linked Data
ClinVar Variation Id:
2639291
ClinVar RCV Id:
RCV003408985
dbSNP Id:
rs576683386
ExAC:
1:152283513 G / A
gnomAD v2:
1-152283513-G-A
gnomAD v3:
1-152311037-G-A
gnomAD v4:
1-152311037-G-A
COSMIC:
COSM675333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152311037G>A , CM000663.2:g.152311037G>A | GRCh38 |
| NC_000001.10:g.152283513G>A , CM000663.1:g.152283513G>A | GRCh37 |
| NC_000001.9:g.150550137G>A | NCBI36 |
| NG_016190.1:g.19167C>T , LRG_1028:g.19167C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.3849C>T MANE Select | ENSP00000357789.1:p.Ser1283= | |
| ENST00000368799.1:c.3849C>T | ENSP00000357789.1:p.Ser1283= | |
| NM_002016.1:c.3849C>T , LRG_1028t1:c.3849C>T | NP_002007.1:p.Ser1283= | |
| XM_011509329.1:c.3849C>T | XP_011507631.1:p.Ser1283= | |
| NM_002016.2:c.3849C>T MANE Select | NP_002007.1:p.Ser1283= |