Linked Data
dbSNP Id:
rs568311804
ExAC:
8:144657229 C / G
gnomAD v2:
8-144657229-C-G
gnomAD v3:
8-143575059-C-G
gnomAD v4:
8-143575059-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143575059C>G , CM000670.2:g.143575059C>G | GRCh38 |
| NC_000008.10:g.144657229C>G , CM000670.1:g.144657229C>G | GRCh37 |
| NC_000008.9:g.144728372C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449291.7:c.1481G>C MANE Select | ENSP00000401508.2:p.Arg494Thr | |
| ENST00000340490.7:c.1481G>C | ENSP00000341136.3:p.Arg494Thr | |
| ENST00000426292.7:c.1442G>C | ENSP00000390949.3:p.Arg481Thr | |
| ENST00000435154.7:c.*105G>C | ENSP00000405670.3:n.*105G>C | |
| ENST00000449291.6:c.1481G>C | ENSP00000401508.2:p.Arg494Thr | |
| ENST00000460623.5:c.420G>C | ||
| ENST00000464332.5:n.1025G>C | ||
| ENST00000498076.5:n.260G>C | ||
| ENST00000529179.1:n.265G>C | ||
| NM_001286829.1:c.1442G>C | NP_001273758.1:p.Arg481Thr | |
| NM_145201.5:c.1481G>C | NP_660202.3:p.Arg494Thr | |
| XM_011517377.1:c.1292-159G>C | XP_011515679.1:n.1292-159G>C | |
| NM_001363145.1:c.1400G>C | NP_001350074.1:p.Arg467Thr | |
| NM_001363146.1:c.797G>C | NP_001350075.1:p.Arg266Thr | |
| XM_017013975.2:c.1700G>C | XP_016869464.1:p.Arg567Thr | |
| XM_017013976.2:c.1700G>C | XP_016869465.1:p.Arg567Thr | |
| XM_017013977.2:c.1400G>C | XP_016869466.1:p.Arg467Thr | |
| XM_017013978.2:c.1511-159G>C | XP_016869467.1:n.1511-159G>C | |
| XM_017013979.2:c.797G>C | XP_016869468.1:p.Arg266Thr | |
| XM_024447332.1:c.929-159G>C | XP_024303100.1:n.929-159G>C | |
| XM_024447333.1:c.716G>C | XP_024303101.1:p.Arg239Thr | |
| NM_145201.6:c.1481G>C MANE Select | NP_660202.3:p.Arg494Thr | |
| NM_001286829.2:c.1442G>C | NP_001273758.1:p.Arg481Thr |