Linked Data
ClinVar Variation Id:
228256
ClinVar RCV Id:
RCV000218495
dbSNP Id:
rs876657640
PubMed:
PMID:11416205
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.69957107A>T , CM000685.2:g.69957107A>T | GRCh38 |
| NC_000023.10:g.69176957A>T , CM000685.1:g.69176957A>T | GRCh37 |
| NC_000023.9:g.69093682A>T | NCBI36 |
| NG_009809.1:g.346047A>T | |
| NG_009809.2:g.346041A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.477A>T MANE Select | ENSP00000363680.4:p.Arg159Ser | |
| ENST00000374548.5:n.719A>T | ||
| ENST00000374552.8:c.477A>T | ENSP00000363680.4:p.Arg159Ser | |
| ENST00000374553.6:c.477A>T | ENSP00000363681.2:p.Arg159Ser | |
| ENST00000502251.5:n.770A>T | ||
| ENST00000503592.5:c.81A>T | ENSP00000423037.1:p.Arg27Ser | |
| ENST00000524573.5:c.477A>T | ENSP00000432585.1:p.Arg159Ser | |
| ENST00000533317.5:n.1092A>T | ||
| ENST00000616899.1:c.81A>T | ENSP00000481963.1:p.Arg27Ser | |
| NM_001005609.1:c.477A>T | NP_001005609.1:p.Arg159Ser | |
| NM_001005612.2:c.477A>T | NP_001005612.2:p.Arg159Ser | |
| NM_001399.4:c.477A>T | NP_001390.1:p.Arg159Ser | |
| XM_006724630.2:c.477A>T | XP_006724693.1:p.Arg159Ser | |
| XM_011530885.1:c.477A>T | XP_011529187.1:p.Arg159Ser | |
| XM_011530885.2:c.477A>T | XP_011529187.1:p.Arg159Ser | |
| XM_017029336.1:c.477A>T | XP_016884825.1:p.Arg159Ser | |
| NM_001399.5:c.477A>T MANE Select | NP_001390.1:p.Arg159Ser | |
| NM_001005609.2:c.477A>T | NP_001005609.1:p.Arg159Ser | |
| NM_001005612.3:c.477A>T | NP_001005612.2:p.Arg159Ser |