Linked Data
ClinVar Variation Id:
3053984
ClinVar RCV Id:
RCV003962229
gnomAD v4:
19-33302028-G-A
MyVariant Identifiers:
chr19:g.33792934G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302028G>A , CM000681.2:g.33302028G>A | GRCh38 |
| NC_000019.9:g.33792934G>A , CM000681.1:g.33792934G>A | GRCh37 |
| NC_000019.8:g.38484774G>A | NCBI36 |
| NG_012022.1:g.5497C>T , LRG_456:g.5497C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.387C>T MANE Select | ENSP00000427514.1:p.Pro129= | |
| ENST00000498907.2:c.387C>T | ENSP00000427514.1:p.Pro129= | |
| NM_001285829.1:c.30C>T | NP_001272758.1:p.Pro10= | |
| NM_001287424.1:c.492C>T | NP_001274353.1:p.Pro164= | |
| NM_001287435.1:c.345C>T | NP_001274364.1:p.Pro115= | |
| NM_004364.4:c.387C>T | NP_004355.2:p.Pro129= | |
| NM_001287424.2:c.492C>T | NP_001274353.1:p.Pro164= | |
| NM_004364.5:c.387C>T MANE Select | NP_004355.2:p.Pro129= | |
| NM_001285829.2:c.30C>T | NP_001272758.1:p.Pro10= | |
| NM_001287435.2:c.345C>T | NP_001274364.1:p.Pro115= |