Linked Data
ClinVar Variation Id:
444742
dbSNP Id:
rs1429859627
gnomAD v2:
8-24811284-G-A
gnomAD v4:
8-24953770-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24953770G>A , CM000670.2:g.24953770G>A | GRCh38 |
| NC_000008.10:g.24811284G>A , CM000670.1:g.24811284G>A | GRCh37 |
| NC_000008.9:g.24867201G>A | NCBI36 |
| NG_008492.1:g.7848C>T , LRG_259:g.7848C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.1195C>T MANE Select | ENSP00000482169.2:p.Arg399Ter | |
| ENST00000610854.1:c.1195C>T | ENSP00000482169.1:p.Arg399Ter | |
| ENST00000619417.1:c.*60C>T | ENSP00000483690.1:n.*60C>T | |
| NM_006158.4:c.1195C>T , LRG_259t1:c.1195C>T | NP_006149.2:p.Arg399Ter | |
| NM_006158.5:c.1195C>T MANE Select | NP_006149.2:p.Arg399Ter |