Linked Data
ClinVar Variation Id:
468985
dbSNP Id:
rs77208721
ExAC:
1:43228001 G / T
gnomAD v2:
1-43228001-G-T
gnomAD v3:
1-42762330-G-T
gnomAD v4:
1-42762330-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42762330G>T , CM000663.2:g.42762330G>T | GRCh38 |
| NC_000001.10:g.43228001G>T , CM000663.1:g.43228001G>T | GRCh37 |
| NC_000001.9:g.43000588G>T | NCBI36 |
| NG_008123.1:g.9755C>A , LRG_5:g.9755C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296388.10:c.611C>A MANE Select | ENSP00000296388.5:p.Pro204His | |
| ENST00000236040.8:c.611C>A | ENSP00000236040.4:p.Pro204His | |
| ENST00000296388.9:c.611C>A | ENSP00000296388.5:p.Pro204His | |
| ENST00000372526.2:c.482C>A | ENSP00000361604.2:p.Pro161His | |
| ENST00000397054.7:c.611C>A | ENSP00000380245.3:p.Pro204His | |
| ENST00000460031.5:n.629C>A | ||
| ENST00000463465.1:n.74C>A | ||
| ENST00000492956.1:n.657C>A | ||
| ENST00000495874.5:n.662C>A | ||
| NM_001146289.1:c.611C>A , LRG_5t2:c.611C>A | NP_001139761.1:p.Pro204His | |
| NM_001243246.1:c.611C>A , LRG_5t3:c.611C>A | NP_001230175.1:p.Pro204His | |
| NM_022356.3:c.611C>A , LRG_5t1:c.611C>A | NP_071751.3:p.Pro204His | |
| XM_005271110.2:c.-401C>A | XP_005271167.1:n.-401C>A | |
| XM_011541947.1:c.-420C>A | XP_011540249.1:n.-420C>A | |
| XM_011541948.1:c.-423C>A | XP_011540250.1:n.-423C>A | |
| XM_011541949.1:c.-420C>A | XP_011540251.1:n.-420C>A | |
| XR_946739.1:n.668C>A | ||
| XM_017002051.2:c.-420C>A | XP_016857540.1:n.-420C>A | |
| XM_017002052.2:c.-420C>A | XP_016857541.1:n.-420C>A | |
| XR_946739.2:n.668C>A | ||
| NM_022356.4:c.611C>A MANE Select | NP_071751.3:p.Pro204His | |
| NM_001146289.2:c.611C>A | NP_001139761.1:p.Pro204His | |
| NM_001243246.2:c.611C>A | NP_001230175.1:p.Pro204His |