Linked Data
ClinVar Variation Id:
597303
dbSNP Id:
rs549991084
ExAC:
1:173878929 G / T
gnomAD v2:
1-173878929-G-T
gnomAD v3:
1-173909791-G-T
gnomAD v4:
1-173909791-G-T
ERepo:
CA1251311/MONDO:0013144/084
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909791G>T , CM000663.2:g.173909791G>T | GRCh38 |
| NC_000001.10:g.173878929G>T , CM000663.1:g.173878929G>T | GRCh37 |
| NC_000001.9:g.172145552G>T | NCBI36 |
| NG_012462.1:g.12588C>A , LRG_577:g.12588C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.914C>A MANE Select | ENSP00000356671.3:p.Pro305His | |
| ENST00000367698.3:c.914C>A | ENSP00000356671.3:p.Pro305His | |
| ENST00000487183.1:n.565C>A | ||
| ENST00000617423.4:c.559+2073C>A | ENSP00000478688.1:n.559+2073C>A | |
| NM_000488.3:c.914C>A , LRG_577t1:c.914C>A | NP_000479.1:p.Pro305His | |
| XM_005245198.2:c.770C>A | XP_005245255.1:p.Pro257His | |
| NM_001365052.1:c.770C>A | NP_001351981.1:p.Pro257His | |
| NM_000488.4:c.914C>A MANE Select | NP_000479.1:p.Pro305His | |
| NM_001365052.2:c.770C>A | NP_001351981.1:p.Pro257His | |
| NM_001386302.1:c.1037C>A | NP_001373231.1:p.Pro346His | |
| NM_001386303.1:c.995C>A | NP_001373232.1:p.Pro332His | |
| NM_001386304.1:c.893C>A | NP_001373233.1:p.Pro298His | |
| NM_001386305.1:c.857C>A | NP_001373234.1:p.Pro286His | |
| NM_001386306.1:c.698C>A | NP_001373235.1:p.Pro233His |