Linked Data
ClinVar Variation Id:
642813
ClinVar RCV Id:
RCV000796350
dbSNP Id:
rs768900677
gnomAD v4:
12-116012817-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116012817T>G , CM000674.2:g.116012817T>G | GRCh38 |
| NC_000012.11:g.116450622T>G , CM000674.1:g.116450622T>G | GRCh37 |
| NC_000012.10:g.114935005T>G | NCBI36 |
| NG_023366.1:g.269370A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.1260A>C MANE Select | ENSP00000281928.3:p.Arg420Ser | |
| ENST00000548743.2:c.1230A>C | ENSP00000448553.2:p.Arg410Ser | |
| ENST00000549786.2:c.688A>C | ||
| ENST00000647567.1:c.1167A>C | ENSP00000497136.1:p.Arg389Ser | |
| ENST00000648737.1:n.1024A>C | ||
| ENST00000650226.1:c.1260A>C | ENSP00000496981.1:p.Arg420Ser | |
| ENST00000281928.7:c.1260A>C | ENSP00000281928.3:p.Arg420Ser | |
| NM_015335.4:c.1260A>C | NP_056150.1:p.Arg420Ser | |
| XM_011538080.1:c.1260A>C | XP_011536382.1:p.Arg420Ser | |
| XM_011538081.1:c.1260A>C | XP_011536383.1:p.Arg420Ser | |
| XM_011538082.1:c.1230A>C | XP_011536384.1:p.Arg410Ser | |
| XM_011538080.2:c.1260A>C | XP_011536382.1:p.Arg420Ser | |
| XM_011538081.2:c.1260A>C | XP_011536383.1:p.Arg420Ser | |
| XM_011538082.2:c.1230A>C | XP_011536384.1:p.Arg410Ser | |
| XM_017019090.1:c.1260A>C | XP_016874579.1:p.Arg420Ser | |
| NM_015335.5:c.1260A>C MANE Select | NP_056150.1:p.Arg420Ser |