Linked Data
ClinVar Variation Id:
1773247
ClinVar RCV Id:
RCV002396821
dbSNP Id:
rs1377852956
gnomAD v2:
3-38794000-A-G
gnomAD v4:
3-38752509-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38752509A>G , CM000665.2:g.38752509A>G | GRCh38 |
| NC_000003.11:g.38794000A>G , CM000665.1:g.38794000A>G | GRCh37 |
| NC_000003.10:g.38769004A>G | NCBI36 |
| NG_031891.2:g.46502T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.1465T>C MANE Select | ENSP00000390600.2:p.Phe489Leu | |
| ENST00000643924.1:c.1465T>C | ENSP00000495595.1:p.Phe489Leu | |
| ENST00000655275.1:c.1492T>C | ENSP00000499510.1:p.Phe498Leu | |
| ENST00000449082.2:c.1465T>C | ENSP00000390600.2:p.Phe489Leu | |
| NM_001293306.2:c.1465T>C | NP_001280235.2:p.Phe489Leu | |
| NM_001293307.2:c.1462-2325T>C | NP_001280236.2:n.1462-2325T>C | |
| NM_006514.3:c.1465T>C | NP_006505.3:p.Phe489Leu | |
| XM_005265371.2:c.1474T>C | XP_005265428.1:p.Phe492Leu | |
| XM_011533993.1:c.1474T>C | XP_011532295.1:p.Phe492Leu | |
| XM_011533994.1:c.1471-2325T>C | XP_011532296.1:n.1471-2325T>C | |
| XM_005265371.3:c.1474T>C | XP_005265428.1:p.Phe492Leu | |
| XM_011533993.2:c.1474T>C | XP_011532295.1:p.Phe492Leu | |
| XM_011533994.2:c.1471-2325T>C | XP_011532296.1:n.1471-2325T>C | |
| NM_006514.4:c.1465T>C MANE Select | NP_006505.4:p.Phe489Leu |