Linked Data
dbSNP Id:
rs747713257
ExAC:
3:49064287 G / A
gnomAD v2:
3-49064287-G-A
gnomAD v3:
3-49026854-G-A
gnomAD v4:
3-49026854-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49026854G>A , CM000665.2:g.49026854G>A | GRCh38 |
| NC_000003.11:g.49064287G>A , CM000665.1:g.49064287G>A | GRCh37 |
| NC_000003.10:g.49039291G>A | NCBI36 |
| NG_012091.1:g.7589C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703936.1:c.2692C>T | ENSP00000515567.1:p.Leu898Phe | |
| ENST00000703937.1:c.*1753C>T | ENSP00000515568.1:n.*1753C>T | |
| ENST00000326739.9:c.652C>T MANE Select | ENSP00000321584.4:p.Leu218Phe | |
| ENST00000429182.6:c.652C>T | ENSP00000393525.2:p.Leu218Phe | |
| ENST00000442157.2:c.577C>T | ENSP00000403502.2:p.Leu193Phe | |
| ENST00000462980.2:n.1167C>T | ||
| ENST00000472328.2:n.718C>T | ||
| ENST00000491610.2:n.612C>T | ||
| ENST00000676607.1:n.948C>T | ||
| ENST00000676627.1:n.1382C>T | ||
| ENST00000676708.1:n.1932C>T | ||
| ENST00000676864.1:n.1801C>T | ||
| ENST00000677010.1:c.688C>T | ENSP00000503089.1:p.Leu230Phe | |
| ENST00000677108.1:n.2558C>T | ||
| ENST00000677168.1:n.1124C>T | ||
| ENST00000677185.1:n.1215C>T | ||
| ENST00000677205.1:n.1436C>T | ||
| ENST00000677344.1:n.1926C>T | ||
| ENST00000677480.1:c.*329C>T | ENSP00000504378.1:n.*329C>T | |
| ENST00000677519.1:n.1362C>T | ||
| ENST00000677593.1:n.1208C>T | ||
| ENST00000677740.1:n.2157C>T | ||
| ENST00000677991.1:n.1825C>T | ||
| ENST00000678001.1:n.1145C>T | ||
| ENST00000678085.1:n.1208C>T | ||
| ENST00000678177.1:n.2501C>T | ||
| ENST00000678603.1:n.1730C>T | ||
| ENST00000678724.1:c.577C>T | ENSP00000503874.1:p.Leu193Phe | |
| ENST00000678920.1:n.810C>T | ||
| ENST00000679019.1:n.1422C>T | ||
| ENST00000679117.1:c.*467C>T | ENSP00000503240.1:n.*467C>T | |
| ENST00000679339.1:n.1493C>T | ||
| ENST00000326739.8:c.652C>T | ENSP00000321584.4:p.Leu218Phe | |
| ENST00000429182.5:c.446C>T | ||
| ENST00000442157.1:c.577C>T | ENSP00000403502.1:p.Leu193Phe | |
| ENST00000462980.1:n.554C>T | ||
| ENST00000491610.1:n.612C>T | ||
| NM_000884.2:c.652C>T | NP_000875.2:p.Leu218Phe | |
| XM_006713128.2:c.862C>T | XP_006713191.1:p.Leu288Phe | |
| XM_006713128.3:c.862C>T | XP_006713191.1:p.Leu288Phe | |
| XM_017006349.1:c.787C>T | XP_016861838.1:p.Leu263Phe | |
| XM_017006350.1:c.787C>T | XP_016861839.1:p.Leu263Phe | |
| NM_000884.3:c.652C>T MANE Select | NP_000875.2:p.Leu218Phe |