Linked Data
ClinVar Variation Id:
1523775
ClinVar RCV Id:
RCV002039130
dbSNP Id:
rs2113532084
gnomAD v4:
5-148402077-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148402077G>T , CM000667.2:g.148402077G>T | GRCh38 |
| NC_000005.9:g.147781640G>T , CM000667.1:g.147781640G>T | GRCh37 |
| NC_000005.8:g.147761833G>T | NCBI36 |
| NG_033871.1:g.23143G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340253.10:c.358G>T MANE Select | ENSP00000342023.6:p.Val120Leu | |
| ENST00000296701.10:c.358G>T | ENSP00000296701.6:p.Val120Leu | |
| ENST00000340253.9:c.358G>T | ENSP00000342023.5:p.Val120Leu | |
| ENST00000394370.7:c.358G>T | ENSP00000377895.3:p.Val120Leu | |
| ENST00000502629.1:n.232G>T | ||
| ENST00000503613.5:n.567G>T | ||
| ENST00000508326.5:n.459G>T | ||
| ENST00000509699.6:n.423G>T | ||
| ENST00000511080.5:n.221+7173G>T | ||
| ENST00000513826.1:c.358G>T | ENSP00000426410.1:p.Val120Leu | |
| ENST00000521160.5:n.407G>T | ||
| NM_001271723.1:c.358G>T | NP_001258652.1:p.Val120Leu | |
| NM_030793.4:c.358G>T | NP_110420.3:p.Val120Leu | |
| XM_005268513.1:c.358G>T | XP_005268570.1:p.Val120Leu | |
| XM_006714797.1:c.358G>T | XP_006714860.1:p.Val120Leu | |
| NM_205836.2:c.358G>T | NP_995308.1:p.Val120Leu | |
| XM_006714797.2:c.358G>T | XP_006714860.1:p.Val120Leu | |
| XM_011537684.3:c.-990G>T | XP_011535986.1:n.-990G>T | |
| XM_017009899.1:c.-900G>T | XP_016865388.1:n.-900G>T | |
| XM_017009900.2:c.-1149G>T | XP_016865389.1:n.-1149G>T | |
| XM_017009901.2:c.-900G>T | XP_016865390.1:n.-900G>T | |
| XM_017009902.2:c.-990G>T | XP_016865391.1:n.-990G>T | |
| XM_024446223.1:c.358G>T | XP_024301991.1:p.Val120Leu | |
| XR_001742284.1:n.504G>T | ||
| NM_030793.5:c.358G>T | NP_110420.3:p.Val120Leu | |
| NM_205836.3:c.358G>T MANE Select | NP_995308.1:p.Val120Leu | |
| NM_001271723.2:c.358G>T | NP_001258652.1:p.Val120Leu |