Linked Data
ClinVar Variation Id:
779460
ClinVar RCV Id:
RCV000960299
dbSNP Id:
rs114562657
ExAC:
17:56638900 G / A
gnomAD v2:
17-56638900-G-A
gnomAD v3:
17-58561539-G-A
gnomAD v4:
17-58561539-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58561539G>A , CM000679.2:g.58561539G>A | GRCh38 |
| NC_000017.10:g.56638900G>A , CM000679.1:g.56638900G>A | GRCh37 |
| NC_000017.9:g.53993899G>A | NCBI36 |
| NG_047169.1:g.135541C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349033.10:c.4138C>T MANE Select | ENSP00000268910.8:p.Leu1380Phe | |
| ENST00000240361.12:c.4276C>T | ENSP00000240361.8:p.Leu1426Phe | |
| ENST00000349033.9:c.4138C>T | ENSP00000268910.8:p.Leu1380Phe | |
| ENST00000389934.7:c.4258C>T | ENSP00000374584.3:p.Leu1420Phe | |
| ENST00000582740.1:c.*3976C>T | ENSP00000463593.1:n.*3976C>T | |
| ENST00000584699.5:n.176C>T | ||
| NM_001201457.1:c.4276C>T | NP_001188386.1:p.Leu1426Phe | |
| NM_031272.4:c.4138C>T | NP_112562.3:p.Leu1380Phe | |
| NM_198393.3:c.4258C>T | NP_938207.2:p.Leu1420Phe | |
| XM_011525028.1:c.4381C>T | XP_011523330.1:p.Leu1461Phe | |
| XM_011525029.1:c.4381C>T | XP_011523331.1:p.Leu1461Phe | |
| XM_011525030.1:c.4378C>T | XP_011523332.1:p.Leu1460Phe | |
| XM_011525031.1:c.4312C>T | XP_011523333.1:p.Leu1438Phe | |
| XM_011525032.1:c.4144C>T | XP_011523334.1:p.Leu1382Phe | |
| XM_011525033.1:c.3082C>T | XP_011523335.1:p.Leu1028Phe | |
| XM_011525029.3:c.4381C>T | XP_011523331.1:p.Leu1461Phe | |
| XM_017024861.1:c.3082C>T | XP_016880350.1:p.Leu1028Phe | |
| NM_001201457.2:c.4276C>T | NP_001188386.1:p.Leu1426Phe | |
| NM_031272.5:c.4138C>T MANE Select | NP_112562.3:p.Leu1380Phe | |
| NM_198393.4:c.4258C>T | NP_938207.2:p.Leu1420Phe |