Linked Data
ClinVar Variation Id:
236085
dbSNP Id:
rs886044728
gnomAD v4:
1-94063153-C-T
PubMed:
PMID:28118664
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94063153C>T , CM000663.2:g.94063153C>T | GRCh38 |
| NC_000001.10:g.94528709C>T , CM000663.1:g.94528709C>T | GRCh37 |
| NC_000001.9:g.94301297C>T | NCBI36 |
| NG_009073.1:g.62997G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1719G>A MANE Select | ENSP00000359245.3:p.Met573Ile | |
| ENST00000649773.1:c.1719G>A | ENSP00000496882.1:p.Met573Ile | |
| ENST00000370225.3:c.1719G>A | ENSP00000359245.3:p.Met573Ile | |
| ENST00000536513.5:c.-65+21G>A | ENSP00000439707.2:n.-65+21G>A | |
| NM_000350.2:c.1719G>A | NP_000341.2:p.Met573Ile | |
| NM_000350.3:c.1719G>A MANE Select | NP_000341.2:p.Met573Ile |