Linked Data
ClinVar Variation Id:
242216
dbSNP Id:
rs567650961
ExAC:
5:1293665 G / T
gnomAD v2:
5-1293665-G-T
gnomAD v3:
5-1293550-G-T
gnomAD v4:
5-1293550-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1293550G>T , CM000667.2:g.1293550G>T | GRCh38 |
| NC_000005.9:g.1293665G>T , CM000667.1:g.1293665G>T | GRCh37 |
| NC_000005.8:g.1346665G>T | NCBI36 |
| NG_009265.1:g.6498C>A , LRG_343:g.6498C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.1336C>A MANE Select | ENSP00000309572.5:p.Arg446Ser | |
| ENST00000656021.1:c.1336C>A | ENSP00000499759.1:p.Arg446Ser | |
| ENST00000310581.9:c.1336C>A | ENSP00000309572.5:p.Arg446Ser | |
| ENST00000334602.10:c.1336C>A | ENSP00000334346.6:p.Arg446Ser | |
| ENST00000460137.6:c.1336C>A | ENSP00000425003.1:p.Arg446Ser | |
| ENST00000508104.2:c.1336C>A | ENSP00000426042.2:p.Arg446Ser | |
| NM_001193376.1:c.1336C>A | NP_001180305.1:p.Arg446Ser | |
| NM_198253.2:c.1336C>A , LRG_343t1:c.1336C>A | NP_937983.2:p.Arg446Ser | |
| NR_149162.1:n.1394C>A | ||
| NR_149163.1:n.1394C>A | ||
| NM_001193376.2:c.1336C>A | NP_001180305.1:p.Arg446Ser | |
| NM_198253.3:c.1336C>A MANE Select | NP_937983.2:p.Arg446Ser | |
| NR_149162.2:n.1415C>A | ||
| NR_149163.2:n.1415C>A | ||
| NM_001193376.3:c.1336C>A | NP_001180305.1:p.Arg446Ser | |
| NR_149162.3:n.1415C>A | ||
| NR_149163.3:n.1415C>A |