Linked Data
ClinVar Variation Id:
4100
ClinVar RCV Id:
RCV000004316
dbSNP Id:
rs267607055
gnomAD v2:
5-149357613-C-T
gnomAD v3:
5-149978050-C-T
gnomAD v4:
5-149978050-C-T
PubMed:
PMID:18925670
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978050C>T , CM000667.2:g.149978050C>T | GRCh38 |
| NC_000005.9:g.149357613C>T , CM000667.1:g.149357613C>T | GRCh37 |
| NC_000005.8:g.149337806C>T | NCBI36 |
| NG_007147.2:g.19168C>T , LRG_684:g.19168C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000690410.1:n.630C>T | ||
| ENST00000286298.5:c.398C>T MANE Select | ENSP00000286298.4:p.Ala133Val | |
| ENST00000286298.4:c.398C>T | ENSP00000286298.4:p.Ala133Val | |
| ENST00000503336.1:c.71C>T | ENSP00000426053.1:p.Ala24Val | |
| NM_000112.3:c.398C>T , LRG_684t1:c.398C>T | NP_000103.2:p.Ala133Val | |
| XM_017009191.2:c.398C>T | XP_016864680.1:p.Ala133Val | |
| NM_000112.4:c.398C>T MANE Select | NP_000103.2:p.Ala133Val |