Linked Data
ClinVar Variation Id:
698142
ClinVar RCV Id:
RCV000865392
dbSNP Id:
rs1015459376
gnomAD v3:
19-33302376-G-C
gnomAD v4:
19-33302376-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302376G>C , CM000681.2:g.33302376G>C | GRCh38 |
| NC_000019.9:g.33793282G>C , CM000681.1:g.33793282G>C | GRCh37 |
| NC_000019.8:g.38485122G>C | NCBI36 |
| NG_012022.1:g.5149C>G , LRG_456:g.5149C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.39C>G MANE Select | ENSP00000427514.1:p.Pro13= | |
| ENST00000498907.2:c.39C>G | ENSP00000427514.1:p.Pro13= | |
| NM_001285829.1:c.-319C>G | NP_001272758.1:n.-319C>G | |
| NM_001287424.1:c.144C>G | NP_001274353.1:p.Pro48= | |
| NM_001287435.1:c.-4C>G | NP_001274364.1:n.-4C>G | |
| NM_004364.4:c.39C>G | NP_004355.2:p.Pro13= | |
| NM_001287424.2:c.144C>G | NP_001274353.1:p.Pro48= | |
| NM_004364.5:c.39C>G MANE Select | NP_004355.2:p.Pro13= | |
| NM_001285829.2:c.-319C>G | NP_001272758.1:n.-319C>G | |
| NM_001287435.2:c.-4C>G | NP_001274364.1:n.-4C>G |