Linked Data
ClinVar Variation Id:
16630
ClinVar RCV Id:
RCV000018109
dbSNP Id:
rs104894165
PubMed:
PMID:16912130
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8073747A>T , CM000672.2:g.8073747A>T | GRCh38 |
| NC_000010.10:g.8115710A>T , CM000672.1:g.8115710A>T | GRCh37 |
| NC_000010.9:g.8155716A>T | NCBI36 |
| NG_015859.1:g.24044A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346208.4:c.1056A>T | ENSP00000341619.3:p.Arg352Ser | |
| ENST00000379328.9:c.1059A>T MANE Select | ENSP00000368632.3:p.Arg353Ser | |
| ENST00000346208.3:c.1056A>T | ENSP00000341619.3:p.Arg352Ser | |
| ENST00000379328.7:c.1059A>T | ENSP00000368632.3:p.Arg353Ser | |
| ENST00000461472.1:n.578A>T | ||
| NM_001002295.1:c.1059A>T | NP_001002295.1:p.Arg353Ser | |
| NM_002051.2:c.1056A>T | NP_002042.1:p.Arg352Ser | |
| XM_005252442.2:c.1059A>T | XP_005252499.1:p.Arg353Ser | |
| XM_005252443.3:c.1059A>T | XP_005252500.1:p.Arg353Ser | |
| XM_005252443.5:c.1059A>T | XP_005252500.1:p.Arg353Ser | |
| NM_001002295.2:c.1059A>T MANE Select | NP_001002295.1:p.Arg353Ser | |
| NM_002051.3:c.1056A>T | NP_002042.1:p.Arg352Ser |