Linked Data
ClinVar Variation Id:
664603
ClinVar RCV Id:
RCV000822727
dbSNP Id:
rs1566174063
gnomAD v4:
13-48303946-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303946A>G , CM000675.2:g.48303946A>G | GRCh38 |
| NC_000013.10:g.48878082A>G , CM000675.1:g.48878082A>G | GRCh37 |
| NC_000013.9:g.47776083A>G | NCBI36 |
| NG_009009.1:g.5200A>G , LRG_517:g.5200A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.34A>G MANE Select | ENSP00000267163.4:p.Thr12Ala | |
| ENST00000646097.1:c.34A>G | ENSP00000496556.1:p.Thr12Ala | |
| ENST00000650461.1:c.34A>G | ENSP00000497193.1:p.Thr12Ala | |
| ENST00000267163.4:c.34A>G | ENSP00000267163.4:p.Thr12Ala | |
| ENST00000467505.5:c.34A>G | ENSP00000434702.1:p.Thr12Ala | |
| ENST00000525036.1:n.196A>G | ||
| NM_000321.2:c.34A>G , LRG_517t1:c.34A>G | NP_000312.2:p.Thr12Ala | |
| NM_000321.3:c.34A>G MANE Select | NP_000312.2:p.Thr12Ala |