Linked Data
ClinVar Variation Id:
2907081
ClinVar RCV Id:
RCV003629783
dbSNP Id:
rs975745726
gnomAD v2:
8-24811007-C-G
gnomAD v3:
8-24953494-C-G
gnomAD v4:
8-24953494-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24953494C>G , CM000670.2:g.24953494C>G | GRCh38 |
| NC_000008.10:g.24811007C>G , CM000670.1:g.24811007C>G | GRCh37 |
| NC_000008.9:g.24866924C>G | NCBI36 |
| NG_008492.1:g.8124G>C , LRG_259:g.8124G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.1471G>C MANE Select | ENSP00000482169.2:p.Ala491Pro | |
| ENST00000610854.1:c.1471G>C | ENSP00000482169.1:p.Ala491Pro | |
| ENST00000619417.1:c.*336G>C | ENSP00000483690.1:n.*336G>C | |
| NM_006158.4:c.1471G>C , LRG_259t1:c.1471G>C | NP_006149.2:p.Ala491Pro | |
| NM_006158.5:c.1471G>C MANE Select | NP_006149.2:p.Ala491Pro |