Linked Data
ClinVar Variation Id:
236123
dbSNP Id:
rs886044746
gnomAD v4:
1-94021279-G-A
PubMed:
PMID:28118664
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021279G>A , CM000663.2:g.94021279G>A | GRCh38 |
| NC_000001.10:g.94486835G>A , CM000663.1:g.94486835G>A | GRCh37 |
| NC_000001.9:g.94259423G>A | NCBI36 |
| NG_009073.1:g.104871C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4979C>T MANE Select | ENSP00000359245.3:p.Pro1660Leu | |
| ENST00000370225.3:c.4979C>T | ENSP00000359245.3:p.Pro1660Leu | |
| ENST00000460514.1:n.473C>T | ||
| ENST00000470771.1:n.89C>T | ||
| ENST00000536513.5:c.1355C>T | ENSP00000439707.2:p.Pro452Leu | |
| NM_000350.2:c.4979C>T | NP_000341.2:p.Pro1660Leu | |
| NM_000350.3:c.4979C>T MANE Select | NP_000341.2:p.Pro1660Leu |