Linked Data
ClinVar Variation Id:
2178378
ClinVar RCV Id:
RCV002595503
dbSNP Id:
rs1212994253
gnomAD v2:
7-150655329-G-T
gnomAD v4:
7-150958241-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958241G>T , CM000669.2:g.150958241G>T | GRCh38 |
| NC_000007.13:g.150655329G>T , CM000669.1:g.150655329G>T | GRCh37 |
| NC_000007.12:g.150286262G>T | NCBI36 |
| NG_008916.1:g.24686C>A , LRG_288:g.24686C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1567C>A | ||
| ENST00000262186.10:c.734C>A MANE Select | ENSP00000262186.5:p.Pro245His | |
| ENST00000262186.9:c.734C>A | ENSP00000262186.5:p.Pro245His | |
| ENST00000430723.4:c.386C>A | ENSP00000387657.4:p.Pro129His | |
| ENST00000532957.5:n.957C>A | ||
| NM_000238.3:c.734C>A , LRG_288t1:c.734C>A | NP_000229.1:p.Pro245His | |
| NM_172056.2:c.734C>A , LRG_288t2:c.734C>A | NP_742053.1:p.Pro245His | |
| XM_011516185.1:c.434C>A | XP_011514487.1:p.Pro145His | |
| XM_011516186.1:c.734C>A | XP_011514488.1:p.Pro245His | |
| XM_011516185.2:c.434C>A | XP_011514487.1:p.Pro145His | |
| XM_011516186.3:c.734C>A | XP_011514488.1:p.Pro245His | |
| XM_017012195.1:c.584C>A | XP_016867684.1:p.Pro195His | |
| XM_017012196.1:c.557C>A | XP_016867685.1:p.Pro186His | |
| NM_000238.4:c.734C>A MANE Select | NP_000229.1:p.Pro245His |