Linked Data
ClinVar Variation Id:
2206973
ClinVar RCV Id:
RCV004071372
dbSNP Id:
rs772227017
ExAC:
8:144657256 T / C
gnomAD v2:
8-144657256-T-C
gnomAD v4:
8-143575086-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143575086T>C , CM000670.2:g.143575086T>C | GRCh38 |
| NC_000008.10:g.144657256T>C , CM000670.1:g.144657256T>C | GRCh37 |
| NC_000008.9:g.144728399T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449291.7:c.1454A>G MANE Select | ENSP00000401508.2:p.Glu485Gly | |
| ENST00000340490.7:c.1454A>G | ENSP00000341136.3:p.Glu485Gly | |
| ENST00000426292.7:c.1415A>G | ENSP00000390949.3:p.Glu472Gly | |
| ENST00000435154.7:c.*78A>G | ENSP00000405670.3:n.*78A>G | |
| ENST00000449291.6:c.1454A>G | ENSP00000401508.2:p.Glu485Gly | |
| ENST00000460623.5:c.393A>G | ||
| ENST00000464332.5:n.998A>G | ||
| ENST00000498076.5:n.233A>G | ||
| ENST00000529179.1:n.238A>G | ||
| NM_001286829.1:c.1415A>G | NP_001273758.1:p.Glu472Gly | |
| NM_145201.5:c.1454A>G | NP_660202.3:p.Glu485Gly | |
| XM_011517377.1:c.1292-186A>G | XP_011515679.1:n.1292-186A>G | |
| NM_001363145.1:c.1373A>G | NP_001350074.1:p.Glu458Gly | |
| NM_001363146.1:c.770A>G | NP_001350075.1:p.Glu257Gly | |
| XM_017013975.2:c.1673A>G | XP_016869464.1:p.Glu558Gly | |
| XM_017013976.2:c.1673A>G | XP_016869465.1:p.Glu558Gly | |
| XM_017013977.2:c.1373A>G | XP_016869466.1:p.Glu458Gly | |
| XM_017013978.2:c.1511-186A>G | XP_016869467.1:n.1511-186A>G | |
| XM_017013979.2:c.770A>G | XP_016869468.1:p.Glu257Gly | |
| XM_024447332.1:c.929-186A>G | XP_024303100.1:n.929-186A>G | |
| XM_024447333.1:c.689A>G | XP_024303101.1:p.Glu230Gly | |
| NM_145201.6:c.1454A>G MANE Select | NP_660202.3:p.Glu485Gly | |
| NM_001286829.2:c.1415A>G | NP_001273758.1:p.Glu472Gly |