Linked Data
ClinVar Variation Id:
1794244
dbSNP Id:
rs2138359583
MyVariant Identifiers:
chr13:g.49050962A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48476826A>G , CM000675.2:g.48476826A>G | GRCh38 |
| NC_000013.10:g.49050962A>G , CM000675.1:g.49050962A>G | GRCh37 |
| NC_000013.9:g.47948963A>G | NCBI36 |
| NG_009009.1:g.178080A>G , LRG_517:g.178080A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2646A>G MANE Select | ENSP00000267163.4:p.Ser882= | |
| ENST00000643064.1:c.194+95383A>G | ||
| ENST00000650461.1:c.2646A>G | ENSP00000497193.1:p.Ser882= | |
| ENST00000267163.4:c.2646A>G | ENSP00000267163.4:p.Ser882= | |
| ENST00000484879.1:n.380A>G | ||
| ENST00000531171.5:n.249A>G | ||
| NM_000321.2:c.2646A>G , LRG_517t1:c.2646A>G | NP_000312.2:p.Ser882= | |
| XM_011535171.1:c.2385A>G | XP_011533473.1:p.Ser795= | |
| XM_011535171.2:c.2385A>G | XP_011533473.1:p.Ser795= | |
| NM_000321.3:c.2646A>G MANE Select | NP_000312.2:p.Ser882= |