Linked Data
ClinVar Variation Id:
301936
ClinVar RCV Id:
RCV000378749
dbSNP Id:
rs150191942
ExAC:
11:102464198 G / A
gnomAD v2:
11-102464198-G-A
gnomAD v3:
11-102593467-G-A
gnomAD v4:
11-102593467-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102593467G>A , CM000673.2:g.102593467G>A | GRCh38 |
| NC_000011.9:g.102464198G>A , CM000673.1:g.102464198G>A | GRCh37 |
| NC_000011.8:g.101969408G>A | NCBI36 |
| NG_012151.1:g.36866C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260228.3:c.1219C>T MANE Select | ENSP00000260228.2:p.Leu407Phe | |
| ENST00000260228.2:c.1219C>T | ENSP00000260228.2:p.Leu407Phe | |
| NM_004771.3:c.1219C>T | NP_004762.2:p.Leu407Phe | |
| NM_004771.4:c.1219C>T MANE Select | NP_004762.2:p.Leu407Phe |