Linked Data
ClinVar Variation Id:
905912
ClinVar RCV Id:
RCV001154742
dbSNP Id:
rs1433608644
gnomAD v4:
4-1002153-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002153G>T , CM000666.2:g.1002153G>T | GRCh38 |
| NC_000004.11:g.995941G>T , CM000666.1:g.995941G>T | GRCh37 |
| NC_000004.10:g.985941G>T | NCBI36 |
| NG_008103.1:g.20157G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.964G>T | ENSP00000247933.4:p.Val322Leu | |
| ENST00000514224.2:c.964G>T MANE Select | ENSP00000425081.2:p.Val322Leu | |
| ENST00000652070.1:n.1020G>T | ||
| ENST00000247933.8:c.964G>T | ENSP00000247933.4:p.Val322Leu | |
| ENST00000514224.1:c.568G>T | ENSP00000425081.1:p.Val190Leu | |
| ENST00000514698.5:n.964G>T | ||
| NM_000203.4:c.964G>T | NP_000194.2:p.Val322Leu | |
| NR_110313.1:n.1052G>T | ||
| XM_006713882.2:c.568G>T | XP_006713945.1:p.Val190Leu | |
| XM_011513459.1:c.923G>T | XP_011511761.1:p.Gly308Val | |
| XM_011513460.1:c.823G>T | XP_011511762.1:p.Val275Leu | |
| XM_011513461.1:c.757G>T | XP_011511763.1:p.Val253Leu | |
| XM_011513462.1:c.676G>T | XP_011511764.1:p.Val226Leu | |
| XM_011513463.1:c.676G>T | XP_011511765.1:p.Val226Leu | |
| XR_924947.1:n.1033G>T | ||
| NM_000203.5:c.964G>T MANE Select | NP_000194.2:p.Val322Leu | |
| NM_001363576.1:c.568G>T | NP_001350505.1:p.Val190Leu | |
| XM_011513461.2:c.757G>T | XP_011511763.1:p.Val253Leu | |
| XM_017008163.1:c.4G>T | XP_016863652.1:p.Val2Leu |