Linked Data
ClinVar Variation Id:
1612616
dbSNP Id:
rs1216871823
gnomAD v2:
15-48703307-A-G
gnomAD v4:
15-48411110-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411110A>G , CM000677.2:g.48411110A>G | GRCh38 |
| NC_000015.9:g.48703307A>G , CM000677.1:g.48703307A>G | GRCh37 |
| NC_000015.8:g.46490599A>G | NCBI36 |
| NG_008805.2:g.239679T>C , LRG_778:g.239679T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1304T>C | ENSP00000453958.2:n.*1304T>C | |
| ENST00000674301.2:c.*2009T>C | ENSP00000501333.2:n.*2009T>C | |
| ENST00000682158.1:n.1877T>C | ||
| ENST00000682170.1:n.2677T>C | ||
| ENST00000682767.1:n.1793T>C | ||
| ENST00000316623.10:c.8496T>C MANE Select | ENSP00000325527.5:p.Ser2832= | |
| ENST00000674301.1:c.3662T>C | ENSP00000501333.1:n.3662T>C | |
| ENST00000316623.9:c.8496T>C | ENSP00000325527.5:p.Ser2832= | |
| ENST00000559133.5:c.3865T>C | ||
| NM_000138.4:c.8496T>C , LRG_778t1:c.8496T>C | NP_000129.3:p.Ser2832= | |
| NM_000138.5:c.8496T>C MANE Select | NP_000129.3:p.Ser2832= |