Linked Data
ClinVar Variation Id:
706391
ClinVar RCV Id:
RCV000876986
dbSNP Id:
rs1060504477
gnomAD v2:
19-33792934-G-T
gnomAD v3:
19-33302028-G-T
gnomAD v4:
19-33302028-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302028G>T , CM000681.2:g.33302028G>T | GRCh38 |
| NC_000019.9:g.33792934G>T , CM000681.1:g.33792934G>T | GRCh37 |
| NC_000019.8:g.38484774G>T | NCBI36 |
| NG_012022.1:g.5497C>A , LRG_456:g.5497C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.387C>A MANE Select | ENSP00000427514.1:p.Pro129= | |
| ENST00000498907.2:c.387C>A | ENSP00000427514.1:p.Pro129= | |
| NM_001285829.1:c.30C>A | NP_001272758.1:p.Pro10= | |
| NM_001287424.1:c.492C>A | NP_001274353.1:p.Pro164= | |
| NM_001287435.1:c.345C>A | NP_001274364.1:p.Pro115= | |
| NM_004364.4:c.387C>A | NP_004355.2:p.Pro129= | |
| NM_001287424.2:c.492C>A | NP_001274353.1:p.Pro164= | |
| NM_004364.5:c.387C>A MANE Select | NP_004355.2:p.Pro129= | |
| NM_001285829.2:c.30C>A | NP_001272758.1:p.Pro10= | |
| NM_001287435.2:c.345C>A | NP_001274364.1:p.Pro115= |