Linked Data
dbSNP Id:
rs746489251
ExAC:
8:134474167 G / T
gnomAD v2:
8-134474167-G-T
gnomAD v4:
8-133461924-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133461924G>T , CM000670.2:g.133461924G>T | GRCh38 |
| NC_000008.10:g.134474167G>T , CM000670.1:g.134474167G>T | GRCh37 |
| NC_000008.9:g.134543349G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522652.6:c.800C>A MANE Select | ENSP00000430515.1:p.Pro267Gln | |
| ENST00000648219.1:c.800C>A | ENSP00000497381.1:p.Pro267Gln | |
| ENST00000399640.3:c.800C>A | ENSP00000414073.1:p.Pro267Gln | |
| ENST00000521180.5:c.800C>A | ENSP00000428540.1:p.Pro267Gln | |
| ENST00000522652.5:c.800C>A | ENSP00000430515.1:p.Pro267Gln | |
| NM_003033.3:c.800C>A | NP_003024.1:p.Pro267Gln | |
| NM_173344.2:c.800C>A | NP_775479.1:p.Pro267Gln | |
| XM_005251023.1:c.800C>A | XP_005251080.1:p.Pro267Gln | |
| XM_005251024.3:c.800C>A | XP_005251081.1:p.Pro267Gln | |
| XM_005251025.3:c.800C>A | XP_005251082.1:p.Pro267Gln | |
| XM_006716617.1:c.800C>A | XP_006716680.1:p.Pro267Gln | |
| XM_011517225.1:c.800C>A | XP_011515527.1:p.Pro267Gln | |
| XM_011517226.1:c.800C>A | XP_011515528.1:p.Pro267Gln | |
| XM_005251025.5:c.800C>A | XP_005251082.1:p.Pro267Gln | |
| XM_006716617.2:c.800C>A | XP_006716680.1:p.Pro267Gln | |
| XM_011517225.2:c.800C>A | XP_011515527.1:p.Pro267Gln | |
| XM_017013736.2:c.800C>A | XP_016869225.1:p.Pro267Gln | |
| XM_024447233.1:c.800C>A | XP_024303001.1:p.Pro267Gln | |
| NM_173344.3:c.800C>A MANE Select | NP_775479.1:p.Pro267Gln | |
| NM_003033.4:c.800C>A | NP_003024.1:p.Pro267Gln |