Linked Data
ClinVar Variation Id:
2796739
ClinVar RCV Id:
RCV003643307
dbSNP Id:
rs760192361
ExAC:
2:202490819 G / A
gnomAD v2:
2-202490819-G-A
gnomAD v3:
2-201626096-G-A
gnomAD v4:
2-201626096-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201626096G>A , CM000664.2:g.201626096G>A | GRCh38 |
| NC_000002.11:g.202490819G>A , CM000664.1:g.202490819G>A | GRCh37 |
| NC_000002.10:g.202199064G>A | NCBI36 |
| NG_032049.1:g.22434C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471318.6:n.885C>T | ||
| ENST00000621467.5:c.963C>T | ENSP00000480508.2:p.Leu321= | |
| ENST00000686475.1:n.1029C>T | ||
| ENST00000409883.7:c.1089C>T MANE Select | ENSP00000386264.2:p.Leu363= | |
| ENST00000286196.9:c.*653C>T | ENSP00000286196.5:n.*653C>T | |
| ENST00000409444.6:c.1065C>T | ENSP00000387203.2:p.Leu355= | |
| ENST00000409883.6:c.1089C>T | ENSP00000386264.2:p.Leu363= | |
| ENST00000471318.5:n.317C>T | ||
| ENST00000495329.1:n.228C>T | ||
| ENST00000621467.4:c.1065C>T | ENSP00000480508.1:p.Leu355= | |
| NM_001044385.2:c.1089C>T | NP_001037850.1:p.Leu363= | |
| NM_152388.3:c.1065C>T | NP_689601.2:p.Leu355= | |
| NM_001044385.3:c.1089C>T MANE Select | NP_001037850.1:p.Leu363= | |
| NM_152388.4:c.1065C>T | NP_689601.2:p.Leu355= |