Linked Data
ClinVar Variation Id:
203976
ClinVar RCV Id:
RCV000186201
dbSNP Id:
rs576618977
ExAC:
2:84652601 G / A
gnomAD v2:
2-84652601-G-A
gnomAD v3:
2-84425477-G-A
gnomAD v4:
2-84425477-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425477G>A , CM000664.2:g.84425477G>A | GRCh38 |
| NC_000002.11:g.84652601G>A , CM000664.1:g.84652601G>A | GRCh37 |
| NC_000002.10:g.84506112G>A | NCBI36 |
| NG_016755.1:g.38986C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.952C>T MANE Select | ENSP00000377446.2:p.Leu318Phe | |
| ENST00000651342.1:c.*392C>T | ENSP00000498471.1:n.*392C>T | |
| ENST00000393868.6:c.952C>T | ENSP00000377446.2:p.Leu318Phe | |
| ENST00000484365.1:n.1460C>T | ||
| ENST00000487809.1:n.699C>T | ||
| ENST00000491123.5:n.798C>T | ||
| NM_003849.3:c.952C>T | NP_003840.2:p.Leu318Phe | |
| NM_003849.4:c.952C>T MANE Select | NP_003840.2:p.Leu318Phe |