Linked Data
ClinVar Variation Id:
7358
dbSNP Id:
rs121909074
ExAC:
6:35467782 A / G
gnomAD v2:
6-35467782-A-G
gnomAD v4:
6-35500005-A-G
PubMed:
PMID:9462750
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35500005A>G , CM000668.2:g.35500005A>G | GRCh38 |
| NC_000006.11:g.35467782A>G , CM000668.1:g.35467782A>G | GRCh37 |
| NC_000006.10:g.35575760A>G | NCBI36 |
| NG_009077.1:g.17866T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229771.11:c.1471T>C MANE Select | ENSP00000229771.6:p.Phe491Leu | |
| ENST00000229771.10:c.1471T>C | ENSP00000229771.6:p.Phe491Leu | |
| ENST00000322263.8:c.1312T>C | ENSP00000319414.4:p.Phe438Leu | |
| ENST00000614066.4:c.1465T>C | ENSP00000477534.1:p.Phe489Leu | |
| NM_001289395.1:c.1312T>C | NP_001276324.1:p.Phe438Leu | |
| NM_003322.4:c.1471T>C | NP_003313.3:p.Phe491Leu | |
| NM_003322.5:c.1471T>C | NP_003313.3:p.Phe491Leu | |
| NM_003322.6:c.1471T>C MANE Select | NP_003313.3:p.Phe491Leu | |
| NM_001289395.2:c.1312T>C | NP_001276324.1:p.Phe438Leu |