Linked Data
ClinVar Variation Id:
556817
ClinVar RCV Id:
RCV000672872
dbSNP Id:
rs376480977
ExAC:
12:103237549 T / A
gnomAD v2:
12-103237549-T-A
gnomAD v4:
12-102843771-T-A
ERepo:
CA6748747/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843771T>A , CM000674.2:g.102843771T>A | GRCh38 |
| NC_000012.11:g.103237549T>A , CM000674.1:g.103237549T>A | GRCh37 |
| NC_000012.10:g.101761679T>A | NCBI36 |
| NG_008690.1:g.78832A>T | |
| NG_008690.2:g.119640A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1074A>T MANE Select | ENSP00000448059.1:p.Leu358Phe | |
| ENST00000307000.7:c.1059A>T | ENSP00000303500.2:p.Leu353Phe | |
| ENST00000549247.6:n.833A>T | ||
| ENST00000551114.2:n.736A>T | ||
| ENST00000553106.5:c.1074A>T | ENSP00000448059.1:p.Leu358Phe | |
| ENST00000635477.1:c.178A>T | ||
| ENST00000635528.1:n.589A>T | ||
| NM_000277.1:c.1074A>T | NP_000268.1:p.Leu358Phe | |
| XM_011538422.1:c.1017A>T | XP_011536724.1:p.Leu339Phe | |
| NM_000277.2:c.1074A>T | NP_000268.1:p.Leu358Phe | |
| NM_001354304.1:c.1074A>T | NP_001341233.1:p.Leu358Phe | |
| NM_000277.3:c.1074A>T MANE Select | NP_000268.1:p.Leu358Phe | |
| NM_001354304.2:c.1074A>T | NP_001341233.1:p.Leu358Phe |