Linked Data
dbSNP Id:
rs1220092471
gnomAD v2:
8-144657507-G-A
gnomAD v3:
8-143575337-G-A
gnomAD v4:
8-143575337-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143575337G>A , CM000670.2:g.143575337G>A | GRCh38 |
| NC_000008.10:g.144657507G>A , CM000670.1:g.144657507G>A | GRCh37 |
| NC_000008.9:g.144728650G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449291.7:c.1300C>T MANE Select | ENSP00000401508.2:p.Leu434Phe | |
| ENST00000340490.7:c.1300C>T | ENSP00000341136.3:p.Leu434Phe | |
| ENST00000426292.7:c.1300C>T | ENSP00000390949.3:p.Leu434Phe | |
| ENST00000435154.7:c.1300C>T | ENSP00000405670.3:p.Leu434Phe | |
| ENST00000449291.6:c.1300C>T | ENSP00000401508.2:p.Leu434Phe | |
| ENST00000460623.5:c.278C>T | ||
| ENST00000464332.5:n.844C>T | ||
| ENST00000498076.5:n.79C>T | ||
| NM_001286829.1:c.1300C>T | NP_001273758.1:p.Leu434Phe | |
| NM_145201.5:c.1300C>T | NP_660202.3:p.Leu434Phe | |
| XM_011517377.1:c.1291+86C>T | XP_011515679.1:n.1291+86C>T | |
| NM_001363145.1:c.1219C>T | NP_001350074.1:p.Leu407Phe | |
| NM_001363146.1:c.616C>T | NP_001350075.1:p.Leu206Phe | |
| XM_017013975.2:c.1519C>T | XP_016869464.1:p.Leu507Phe | |
| XM_017013976.2:c.1519C>T | XP_016869465.1:p.Leu507Phe | |
| XM_017013977.2:c.1219C>T | XP_016869466.1:p.Leu407Phe | |
| XM_017013978.2:c.1510+86C>T | XP_016869467.1:n.1510+86C>T | |
| XM_017013979.2:c.616C>T | XP_016869468.1:p.Leu206Phe | |
| XM_024447332.1:c.928+86C>T | XP_024303100.1:n.928+86C>T | |
| XM_024447333.1:c.535C>T | XP_024303101.1:p.Leu179Phe | |
| NM_145201.6:c.1300C>T MANE Select | NP_660202.3:p.Leu434Phe | |
| NM_001286829.2:c.1300C>T | NP_001273758.1:p.Leu434Phe |