Linked Data
ClinVar Variation Id:
1128390
ClinVar RCV Id:
RCV001461132
dbSNP Id:
rs1479630822
gnomAD v4:
2-218882182-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218882182G>T , CM000664.2:g.218882182G>T | GRCh38 |
| NC_000002.11:g.219746904G>T , CM000664.1:g.219746904G>T | GRCh37 |
| NC_000002.10:g.219455148G>T | NCBI36 |
| NG_012179.1:g.6650G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.135G>T MANE Select | ENSP00000258411.3:p.Leu45= | |
| ENST00000258411.7:c.135G>T | ENSP00000258411.3:p.Leu45= | |
| ENST00000458582.1:c.22G>T | ||
| NM_025216.2:c.135G>T | NP_079492.2:p.Leu45= | |
| XM_011511928.1:c.84G>T | XP_011510230.1:p.Leu28= | |
| XM_011511929.1:c.39G>T | XP_011510231.1:p.Leu13= | |
| XM_011511930.1:c.135G>T | XP_011510232.1:p.Leu45= | |
| XM_011511929.2:c.39G>T | XP_011510231.1:p.Leu13= | |
| NM_025216.3:c.135G>T MANE Select | NP_079492.2:p.Leu45= |