Linked Data
ClinVar Variation Id:
1419332
dbSNP Id:
rs1289232116
gnomAD v2:
9-130587634-G-T
gnomAD v4:
9-127825355-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127825355G>T , CM000671.2:g.127825355G>T | GRCh38 |
| NC_000009.11:g.130587634G>T , CM000671.1:g.130587634G>T | GRCh37 |
| NC_000009.10:g.129627455G>T | NCBI36 |
| NG_009551.1:g.34414C>A , LRG_589:g.34414C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.146C>A | ENSP00000479015.1:p.Pro49His | |
| ENST00000373203.9:c.692C>A MANE Select | ENSP00000362299.4:p.Pro231His | |
| ENST00000344849.4:c.692C>A | ENSP00000341917.3:p.Pro231His | |
| ENST00000373203.8:c.692C>A | ENSP00000362299.4:p.Pro231His | |
| ENST00000480266.5:c.146C>A | ENSP00000479015.1:p.Pro49His | |
| NM_000118.3:c.692C>A , LRG_589t1:c.692C>A | NP_000109.1:p.Pro231His | |
| NM_001114753.2:c.692C>A , LRG_589t2:c.692C>A | NP_001108225.1:p.Pro231His | |
| NM_001278138.1:c.146C>A | NP_001265067.1:p.Pro49His | |
| NM_001114753.3:c.692C>A MANE Select | NP_001108225.1:p.Pro231His | |
| NM_001278138.2:c.146C>A | NP_001265067.1:p.Pro49His |