Linked Data
ClinVar Variation Id:
208033
dbSNP Id:
rs754097561
gnomAD v2:
19-7594575-G-T
gnomAD v4:
19-7529689-G-T
PubMed:
PMID:20301393
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529689G>T , CM000681.2:g.7529689G>T | GRCh38 |
| NC_000019.9:g.7594575G>T , CM000681.1:g.7594575G>T | GRCh37 |
| NC_000019.8:g.7500575G>T | NCBI36 |
| NG_013374.1:g.538G>T | |
| NG_015806.1:g.12080G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.1336G>T MANE Select | ENSP00000264079.5:p.Val446Leu | |
| ENST00000264079.10:c.1336G>T | ENSP00000264079.5:p.Val446Leu | |
| ENST00000394321.9:n.1651G>T | ||
| ENST00000594692.1:n.332G>T | ||
| ENST00000595860.5:n.519G>T | ||
| ENST00000599334.1:c.213G>T | ||
| NM_020533.2:c.1336G>T | NP_065394.1:p.Val446Leu | |
| NM_020533.3:c.1336G>T MANE Select | NP_065394.1:p.Val446Leu |