Linked Data
ClinVar Variation Id:
203975
ClinVar RCV Id:
RCV000186200
dbSNP Id:
rs796052052
gnomAD v2:
2-84652702-G-A
gnomAD v3:
2-84425578-G-A
gnomAD v4:
2-84425578-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425578G>A , CM000664.2:g.84425578G>A | GRCh38 |
| NC_000002.11:g.84652702G>A , CM000664.1:g.84652702G>A | GRCh37 |
| NC_000002.10:g.84506213G>A | NCBI36 |
| NG_016755.1:g.38885C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393868.7:c.851C>T MANE Select | ENSP00000377446.2:p.Ser284Phe | |
| ENST00000651342.1:c.*291C>T | ENSP00000498471.1:n.*291C>T | |
| ENST00000393868.6:c.851C>T | ENSP00000377446.2:p.Ser284Phe | |
| ENST00000484365.1:n.1359C>T | ||
| ENST00000487809.1:n.598C>T | ||
| ENST00000491123.5:n.697C>T | ||
| NM_003849.3:c.851C>T | NP_003840.2:p.Ser284Phe | |
| NM_003849.4:c.851C>T MANE Select | NP_003840.2:p.Ser284Phe |