Linked Data
ClinVar Variation Id:
638964
ClinVar RCV Id:
RCV001297506
dbSNP Id:
rs766605891
gnomAD v4:
6-49458049-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49458049T>A , CM000668.2:g.49458049T>A | GRCh38 |
| NC_000006.11:g.49425762T>A , CM000668.1:g.49425762T>A | GRCh37 |
| NC_000006.10:g.49533721T>A | NCBI36 |
| NG_007100.1:g.10091A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.395A>T MANE Select | ENSP00000274813.3:p.Gln132Leu | |
| ENST00000274813.3:c.395A>T | ENSP00000274813.3:p.Gln132Leu | |
| NM_000255.3:c.395A>T | NP_000246.2:p.Gln132Leu | |
| XM_005249143.2:c.395A>T | XP_005249200.1:p.Gln132Leu | |
| XM_005249143.3:c.395A>T | XP_005249200.1:p.Gln132Leu | |
| NM_000255.4:c.395A>T MANE Select | NP_000246.2:p.Gln132Leu |