Linked Data
ClinVar Variation Id:
2184695
ClinVar RCV Id:
RCV002632299
dbSNP Id:
rs1482163833
gnomAD v3:
7-92501947-G-A
gnomAD v4:
7-92501947-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92501947G>A , CM000669.2:g.92501947G>A | GRCh38 |
| NC_000007.13:g.92131261G>A , CM000669.1:g.92131261G>A | GRCh37 |
| NC_000007.12:g.91969197G>A | NCBI36 |
| NG_008341.1:g.31585C>T | |
| NG_008341.2:g.31585C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2359C>T MANE Select | ENSP00000248633.4:p.Leu787Phe | |
| ENST00000248633.8:c.2359C>T | ENSP00000248633.4:p.Leu787Phe | |
| ENST00000428214.5:c.2188C>T | ENSP00000394413.1:p.Leu730Phe | |
| ENST00000438045.5:c.1393C>T | ENSP00000410438.1:p.Leu465Phe | |
| ENST00000484913.5:n.2398C>T | ||
| ENST00000496092.1:n.157C>T | ||
| ENST00000496420.5:n.2035C>T | ||
| NM_000466.2:c.2359C>T | NP_000457.1:p.Leu787Phe | |
| NM_001282677.1:c.2188C>T | NP_001269606.1:p.Leu730Phe | |
| NM_001282678.1:c.1735C>T | NP_001269607.1:p.Leu579Phe | |
| XM_005250433.3:c.610C>T | XP_005250490.1:p.Leu204Phe | |
| XR_242246.3:n.2455C>T | ||
| XM_017012319.2:c.610C>T | XP_016867808.1:p.Leu204Phe | |
| XR_001744808.2:n.1386C>T | ||
| XR_242246.5:n.2406C>T | ||
| NM_000466.3:c.2359C>T MANE Select | NP_000457.1:p.Leu787Phe | |
| NM_001282677.2:c.2188C>T | NP_001269606.1:p.Leu730Phe | |
| NM_001282678.2:c.1735C>T | NP_001269607.1:p.Leu579Phe |