Linked Data
ClinVar Variation Id:
1987570
ClinVar RCV Id:
RCV002776082
dbSNP Id:
rs746698197
ExAC:
4:997344 G / T
gnomAD v2:
4-997344-G-T
gnomAD v4:
4-1003556-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1003556G>T , CM000666.2:g.1003556G>T | GRCh38 |
| NC_000004.11:g.997344G>T , CM000666.1:g.997344G>T | GRCh37 |
| NC_000004.10:g.987344G>T | NCBI36 |
| NG_008103.1:g.21560G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1658G>T | ENSP00000247933.4:p.Arg553Leu | |
| ENST00000514224.2:c.1658G>T MANE Select | ENSP00000425081.2:p.Arg553Leu | |
| ENST00000652070.1:n.1714G>T | ||
| ENST00000247933.8:c.1658G>T | ENSP00000247933.4:p.Arg553Leu | |
| ENST00000514224.1:c.1262G>T | ENSP00000425081.1:p.Arg421Leu | |
| ENST00000514417.1:n.50G>T | ||
| ENST00000514698.5:n.1765G>T | ||
| NM_000203.4:c.1658G>T | NP_000194.2:p.Arg553Leu | |
| NR_110313.1:n.1746G>T | ||
| XM_006713882.2:c.1262G>T | XP_006713945.1:p.Arg421Leu | |
| XM_011513459.1:c.1724G>T | XP_011511761.1:p.Arg575Leu | |
| XM_011513460.1:c.1517G>T | XP_011511762.1:p.Arg506Leu | |
| XM_011513461.1:c.1451G>T | XP_011511763.1:p.Arg484Leu | |
| XM_011513462.1:c.1370G>T | XP_011511764.1:p.Arg457Leu | |
| XM_011513463.1:c.1370G>T | XP_011511765.1:p.Arg457Leu | |
| XR_924947.1:n.1914G>T | ||
| NM_000203.5:c.1658G>T MANE Select | NP_000194.2:p.Arg553Leu | |
| NM_001363576.1:c.1262G>T | NP_001350505.1:p.Arg421Leu | |
| XM_011513461.2:c.1451G>T | XP_011511763.1:p.Arg484Leu | |
| XM_017008163.1:c.698G>T | XP_016863652.1:p.Arg233Leu |