ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956070G>A , CM000670.2:g.24956070G>A | GRCh38 |
| NC_000008.10:g.24813584G>A , CM000670.1:g.24813584G>A | GRCh37 |
| NC_000008.9:g.24869501G>A | NCBI36 |
| NG_008492.1:g.5548C>T , LRG_259:g.5548C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.446C>T MANE Select | ENSP00000482169.2:p.Ala149Val | |
| ENST00000610854.1:c.446C>T | ENSP00000482169.1:p.Ala149Val | |
| ENST00000615973.1:n.652C>T | ||
| ENST00000619417.1:c.446C>T | ENSP00000483690.1:p.Ala149Val | |
| NM_006158.4:c.446C>T , LRG_259t1:c.446C>T | NP_006149.2:p.Ala149Val | |
| NM_006158.5:c.446C>T MANE Select | NP_006149.2:p.Ala149Val |