Linked Data
ClinVar Variation Id:
998733
ClinVar RCV Id:
RCV001294626
dbSNP Id:
rs1478319097
gnomAD v4:
19-33302348-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302348G>A , CM000681.2:g.33302348G>A | GRCh38 |
| NC_000019.9:g.33793254G>A , CM000681.1:g.33793254G>A | GRCh37 |
| NC_000019.8:g.38485094G>A | NCBI36 |
| NG_012022.1:g.5177C>T , LRG_456:g.5177C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000498907.3:c.67C>T MANE Select | ENSP00000427514.1:p.Pro23Ser | |
| ENST00000498907.2:c.67C>T | ENSP00000427514.1:p.Pro23Ser | |
| NM_001285829.1:c.-291C>T | NP_001272758.1:n.-291C>T | |
| NM_001287424.1:c.172C>T | NP_001274353.1:p.Pro58Ser | |
| NM_001287435.1:c.25C>T | NP_001274364.1:p.Pro9Ser | |
| NM_004364.4:c.67C>T | NP_004355.2:p.Pro23Ser | |
| NM_001287424.2:c.172C>T | NP_001274353.1:p.Pro58Ser | |
| NM_004364.5:c.67C>T MANE Select | NP_004355.2:p.Pro23Ser | |
| NM_001285829.2:c.-291C>T | NP_001272758.1:n.-291C>T | |
| NM_001287435.2:c.25C>T | NP_001274364.1:p.Pro9Ser |