Linked Data
ClinVar Variation Id:
2463536
ClinVar RCV Id:
RCV004262454
dbSNP Id:
rs765564346
ExAC:
3:39307229 G / A
gnomAD v2:
3-39307229-G-A
gnomAD v3:
3-39265738-G-A
gnomAD v4:
3-39265738-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39265738G>A , CM000665.2:g.39265738G>A | GRCh38 |
| NC_000003.11:g.39307229G>A , CM000665.1:g.39307229G>A | GRCh37 |
| NC_000003.10:g.39282233G>A | NCBI36 |
| NG_016362.1:g.20998C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399220.3:c.772C>T MANE Select | ENSP00000382166.3:p.Leu258Phe | |
| ENST00000358309.3:c.868C>T | ENSP00000351059.3:p.Leu290Phe | |
| ENST00000399220.2:c.772C>T | ENSP00000382166.2:p.Leu258Phe | |
| ENST00000541347.5:c.772C>T | ENSP00000439140.1:p.Leu258Phe | |
| ENST00000542107.5:c.772C>T | ENSP00000444928.1:p.Leu258Phe | |
| NM_001171171.1:c.772C>T | NP_001164642.1:p.Leu258Phe | |
| NM_001171172.1:c.772C>T | NP_001164643.1:p.Leu258Phe | |
| NM_001171174.1:c.868C>T | NP_001164645.1:p.Leu290Phe | |
| NM_001337.3:c.772C>T | NP_001328.1:p.Leu258Phe | |
| NM_001337.4:c.772C>T MANE Select | NP_001328.1:p.Leu258Phe | |
| NM_001171171.2:c.772C>T | NP_001164642.1:p.Leu258Phe | |
| NM_001171172.2:c.772C>T | NP_001164643.1:p.Leu258Phe |