Linked Data
ClinVar Variation Id:
2887169
ClinVar RCV Id:
RCV003722249
dbSNP Id:
rs771745542
ExAC:
19:3595908 C / A
gnomAD v2:
19-3595908-C-A
gnomAD v3:
19-3595910-C-A
gnomAD v4:
19-3595910-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595910C>A , CM000681.2:g.3595910C>A | GRCh38 |
| NC_000019.9:g.3595908C>A , CM000681.1:g.3595908C>A | GRCh37 |
| NC_000019.8:g.3546908C>A | NCBI36 |
| NG_013363.1:g.15924G>T , LRG_578:g.15924G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.810G>T MANE Select | ENSP00000364336.4:p.Leu270= | |
| ENST00000375190.8:c.810G>T | ENSP00000364336.3:p.Leu270= | |
| ENST00000411851.3:c.810G>T | ENSP00000393333.2:p.Leu270= | |
| ENST00000589966.1:c.421G>T | ENSP00000468145.1:p.Ala141Ser | |
| NM_001060.5:c.810G>T , LRG_578t1:c.810G>T | NP_001051.1:p.Leu270= | |
| NM_201636.2:c.810G>T | NP_963998.2:p.Leu270= | |
| XM_011528214.1:c.810G>T | XP_011526516.1:p.Leu270= | |
| XM_011528214.2:c.810G>T | XP_011526516.1:p.Leu270= | |
| NM_001060.6:c.810G>T MANE Select | NP_001051.1:p.Leu270= | |
| NM_201636.3:c.810G>T | NP_963998.2:p.Leu270= |