Linked Data
dbSNP Id:
rs778945531
ExAC:
1:45443997 G / T
gnomAD v2:
1-45443997-G-T
gnomAD v4:
1-44978325-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44978325G>T , CM000663.2:g.44978325G>T | GRCh38 |
| NC_000001.10:g.45443997G>T , CM000663.1:g.45443997G>T | GRCh37 |
| NC_000001.9:g.45216584G>T | NCBI36 |
| NG_015864.1:g.13365C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360403.7:c.284C>A MANE Select | ENSP00000353575.2:p.Pro95Gln | |
| ENST00000360403.6:c.284C>A | ENSP00000353575.2:p.Pro95Gln | |
| ENST00000372182.6:n.397C>A | ||
| ENST00000372183.7:c.284C>A | ENSP00000361257.3:p.Pro95Gln | |
| ENST00000477953.5:n.387C>A | ||
| ENST00000480675.5:c.284C>A | ENSP00000485842.1:p.Pro95Gln | |
| ENST00000487532.5:n.396C>A | ||
| ENST00000497010.1:n.396C>A | ||
| ENST00000620860.4:c.284C>A | ENSP00000483996.1:p.Pro95Gln | |
| NM_001166588.2:c.284C>A | NP_001160060.1:p.Pro95Gln | |
| NM_001261418.1:c.284C>A | NP_001248347.1:p.Pro95Gln | |
| NM_020365.4:c.284C>A | NP_065098.1:p.Pro95Gln | |
| XM_011542396.1:c.284C>A | XP_011540698.1:p.Pro95Gln | |
| XM_017002745.2:c.284C>A | XP_016858234.1:p.Pro95Gln | |
| XM_017002746.1:c.-171C>A | XP_016858235.1:n.-171C>A | |
| XM_017002747.1:c.-171C>A | XP_016858236.1:n.-171C>A | |
| NM_020365.5:c.284C>A MANE Select | NP_065098.1:p.Pro95Gln | |
| NM_001166588.3:c.284C>A | NP_001160060.1:p.Pro95Gln | |
| NM_001261418.2:c.284C>A | NP_001248347.1:p.Pro95Gln |