Linked Data
ClinVar Variation Id:
1353469
ClinVar RCV Id:
RCV001863431
dbSNP Id:
rs2101715947
gnomAD v4:
1-114679647-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114679647G>A , CM000663.2:g.114679647G>A | GRCh38 |
| NC_000001.10:g.115222268G>A , CM000663.1:g.115222268G>A | GRCh37 |
| NC_000001.9:g.115023791G>A | NCBI36 |
| NG_008012.1:g.20909C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.817C>T | ENSP00000358551.4:p.Leu273Phe | |
| ENST00000520113.7:c.829C>T MANE Select | ENSP00000430075.3:p.Leu277Phe | |
| ENST00000637080.1:c.612C>T | ENSP00000489753.1:n.612C>T | |
| ENST00000639077.1:n.494C>T | ||
| ENST00000369538.3:c.916C>T | ENSP00000358551.3:p.Leu306Phe | |
| ENST00000520113.6:c.928C>T | ENSP00000430075.2:p.Leu310Phe | |
| NM_000036.2:c.928C>T | NP_000027.2:p.Leu310Phe | |
| NM_001172626.1:c.916C>T | NP_001166097.1:p.Leu306Phe | |
| NM_000036.3:c.829C>T MANE Select | NP_000027.3:p.Leu277Phe | |
| NM_001172626.2:c.817C>T | NP_001166097.2:p.Leu273Phe |