Linked Data
ClinVar Variation Id:
960247
ClinVar RCV Id:
RCV002563237
dbSNP Id:
rs1751155418
gnomAD v4:
5-1293717-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1293717C>T , CM000667.2:g.1293717C>T | GRCh38 |
| NC_000005.9:g.1293832C>T , CM000667.1:g.1293832C>T | GRCh37 |
| NC_000005.8:g.1346832C>T | NCBI36 |
| NG_009265.1:g.6331G>A , LRG_343:g.6331G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.1169G>A MANE Select | ENSP00000309572.5:p.Arg390Gln | |
| ENST00000656021.1:c.1169G>A | ENSP00000499759.1:p.Arg390Gln | |
| ENST00000310581.9:c.1169G>A | ENSP00000309572.5:p.Arg390Gln | |
| ENST00000334602.10:c.1169G>A | ENSP00000334346.6:p.Arg390Gln | |
| ENST00000460137.6:c.1169G>A | ENSP00000425003.1:p.Arg390Gln | |
| ENST00000508104.2:c.1169G>A | ENSP00000426042.2:p.Arg390Gln | |
| NM_001193376.1:c.1169G>A | NP_001180305.1:p.Arg390Gln | |
| NM_198253.2:c.1169G>A , LRG_343t1:c.1169G>A | NP_937983.2:p.Arg390Gln | |
| NR_149162.1:n.1227G>A | ||
| NR_149163.1:n.1227G>A | ||
| NM_001193376.2:c.1169G>A | NP_001180305.1:p.Arg390Gln | |
| NM_198253.3:c.1169G>A MANE Select | NP_937983.2:p.Arg390Gln | |
| NR_149162.2:n.1248G>A | ||
| NR_149163.2:n.1248G>A | ||
| NM_001193376.3:c.1169G>A | NP_001180305.1:p.Arg390Gln | |
| NR_149162.3:n.1248G>A | ||
| NR_149163.3:n.1248G>A |