Linked Data
ClinVar Variation Id:
3115627
ClinVar RCV Id:
RCV004409423
dbSNP Id:
rs193166229
gnomAD v2:
19-2251595-G-T
gnomAD v3:
19-2251596-G-T
gnomAD v4:
19-2251596-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251596G>T , CM000681.2:g.2251596G>T | GRCh38 |
| NC_000019.9:g.2251595G>T , CM000681.1:g.2251595G>T | GRCh37 |
| NC_000019.8:g.2202595G>T | NCBI36 |
| NG_012190.1:g.7483G>T | |
| NG_032853.1:g.9828C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1322G>T MANE Select | ENSP00000221496.2:p.Arg441Leu | |
| ENST00000221496.4:c.1322G>T | ENSP00000221496.2:p.Arg441Leu | |
| ENST00000589313.2:n.1675G>T | ||
| NM_000479.3:c.1322G>T | NP_000470.2:p.Arg441Leu | |
| NM_000479.4:c.1322G>T | NP_000470.2:p.Arg441Leu | |
| NM_000479.5:c.1322G>T MANE Select | NP_000470.3:p.Arg441Leu |