Linked Data
ClinVar Variation Id:
664659
ClinVar RCV Id:
RCV000822795
dbSNP Id:
rs1600023223
gnomAD v4:
19-33302029-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302029G>T , CM000681.2:g.33302029G>T | GRCh38 |
| NC_000019.9:g.33792935G>T , CM000681.1:g.33792935G>T | GRCh37 |
| NC_000019.8:g.38484775G>T | NCBI36 |
| NG_012022.1:g.5496C>A , LRG_456:g.5496C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.386C>A MANE Select | ENSP00000427514.1:p.Pro129His | |
| ENST00000498907.2:c.386C>A | ENSP00000427514.1:p.Pro129His | |
| NM_001285829.1:c.29C>A | NP_001272758.1:p.Pro10His | |
| NM_001287424.1:c.491C>A | NP_001274353.1:p.Pro164His | |
| NM_001287435.1:c.344C>A | NP_001274364.1:p.Pro115His | |
| NM_004364.4:c.386C>A | NP_004355.2:p.Pro129His | |
| NM_001287424.2:c.491C>A | NP_001274353.1:p.Pro164His | |
| NM_004364.5:c.386C>A MANE Select | NP_004355.2:p.Pro129His | |
| NM_001285829.2:c.29C>A | NP_001272758.1:p.Pro10His | |
| NM_001287435.2:c.344C>A | NP_001274364.1:p.Pro115His |