Linked Data
dbSNP Id:
rs758303756
ExAC:
8:144657058 C / T
gnomAD v2:
8-144657058-C-T
gnomAD v3:
8-143574888-C-T
gnomAD v4:
8-143574888-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143574888C>T , CM000670.2:g.143574888C>T | GRCh38 |
| NC_000008.10:g.144657058C>T , CM000670.1:g.144657058C>T | GRCh37 |
| NC_000008.9:g.144728201C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449291.7:c.1567G>A MANE Select | ENSP00000401508.2:p.Glu523Lys | |
| ENST00000340490.7:c.1652G>A | ENSP00000341136.3:p.Arg551Gln | |
| ENST00000426292.7:c.1528G>A | ENSP00000390949.3:p.Glu510Lys | |
| ENST00000435154.7:c.*276G>A | ENSP00000405670.3:n.*276G>A | |
| ENST00000449291.6:c.1567G>A | ENSP00000401508.2:p.Glu523Lys | |
| ENST00000460623.5:c.591G>A | ||
| ENST00000464332.5:n.1111G>A | ||
| ENST00000498076.5:n.346G>A | ||
| ENST00000529179.1:n.351G>A | ||
| NM_001286829.1:c.1528G>A | NP_001273758.1:p.Glu510Lys | |
| NM_145201.5:c.1567G>A | NP_660202.3:p.Glu523Lys | |
| XM_011517377.1:c.1304G>A | XP_011515679.1:p.Arg435Gln | |
| NM_001363145.1:c.1486G>A | NP_001350074.1:p.Glu496Lys | |
| NM_001363146.1:c.883G>A | NP_001350075.1:p.Glu295Lys | |
| XM_017013975.2:c.1871G>A | XP_016869464.1:p.Arg624Gln | |
| XM_017013976.2:c.1786G>A | XP_016869465.1:p.Glu596Lys | |
| XM_017013977.2:c.1571G>A | XP_016869466.1:p.Arg524Gln | |
| XM_017013978.2:c.1523G>A | XP_016869467.1:p.Arg508Gln | |
| XM_017013979.2:c.968G>A | XP_016869468.1:p.Arg323Gln | |
| XM_024447332.1:c.941G>A | XP_024303100.1:p.Arg314Gln | |
| XM_024447333.1:c.887G>A | XP_024303101.1:p.Arg296Gln | |
| NM_145201.6:c.1567G>A MANE Select | NP_660202.3:p.Glu523Lys | |
| NM_001286829.2:c.1528G>A | NP_001273758.1:p.Glu510Lys |