Linked Data
dbSNP Id:
rs772353206
ExAC:
8:144657670 C / T
gnomAD v2:
8-144657670-C-T
gnomAD v3:
8-143575500-C-T
gnomAD v4:
8-143575500-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143575500C>T , CM000670.2:g.143575500C>T | GRCh38 |
| NC_000008.10:g.144657670C>T , CM000670.1:g.144657670C>T | GRCh37 |
| NC_000008.9:g.144728813C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449291.7:c.1214G>A MANE Select | ENSP00000401508.2:p.Arg405Gln | |
| ENST00000340490.7:c.1214G>A | ENSP00000341136.3:p.Arg405Gln | |
| ENST00000426292.7:c.1214G>A | ENSP00000390949.3:p.Arg405Gln | |
| ENST00000435154.7:c.1214G>A | ENSP00000405670.3:p.Arg405Gln | |
| ENST00000449291.6:c.1214G>A | ENSP00000401508.2:p.Arg405Gln | |
| ENST00000460623.5:c.192G>A | ||
| ENST00000464332.5:n.758G>A | ||
| ENST00000525583.5:c.998G>A | ||
| NM_001286829.1:c.1214G>A | NP_001273758.1:p.Arg405Gln | |
| NM_145201.5:c.1214G>A | NP_660202.3:p.Arg405Gln | |
| XM_011517377.1:c.1214G>A | XP_011515679.1:p.Arg405Gln | |
| NM_001363145.1:c.1133G>A | NP_001350074.1:p.Arg378Gln | |
| NM_001363146.1:c.530G>A | NP_001350075.1:p.Arg177Gln | |
| XM_017013975.2:c.1433G>A | XP_016869464.1:p.Arg478Gln | |
| XM_017013976.2:c.1433G>A | XP_016869465.1:p.Arg478Gln | |
| XM_017013977.2:c.1133G>A | XP_016869466.1:p.Arg378Gln | |
| XM_017013978.2:c.1433G>A | XP_016869467.1:p.Arg478Gln | |
| XM_017013979.2:c.530G>A | XP_016869468.1:p.Arg177Gln | |
| XM_024447332.1:c.851G>A | XP_024303100.1:p.Arg284Gln | |
| XM_024447333.1:c.449G>A | XP_024303101.1:p.Arg150Gln | |
| NM_145201.6:c.1214G>A MANE Select | NP_660202.3:p.Arg405Gln | |
| NM_001286829.2:c.1214G>A | NP_001273758.1:p.Arg405Gln |