Linked Data
ClinVar Variation Id:
17361
ClinVar RCV Id:
RCV000018905
RCV000484896
RCV002247358
RCV002272023
RCV003152666
RCV003320353
RCV001729352
RCV002276564
dbSNP Id:
rs121912870
PubMed:
PMID:8423604
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47975971C>T , CM000674.2:g.47975971C>T | GRCh38 |
| NC_000012.11:g.48369754C>T , CM000674.1:g.48369754C>T | GRCh37 |
| NC_000012.10:g.46656021C>T | NCBI36 |
| NG_008072.1:g.33532G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.3382G>A | ENSP00000338213.6:p.Gly1128Ser | |
| ENST00000380518.8:c.3589G>A MANE Select | ENSP00000369889.3:p.Gly1197Ser | |
| ENST00000337299.6:c.3382G>A | ENSP00000338213.6:p.Gly1128Ser | |
| ENST00000380518.7:c.3589G>A | ENSP00000369889.3:p.Gly1197Ser | |
| ENST00000493991.5:n.2675G>A | ||
| ENST00000546974.1:n.442G>A | ||
| NM_001844.4:c.3589G>A | NP_001835.3:p.Gly1197Ser | |
| NM_033150.2:c.3382G>A | NP_149162.2:p.Gly1128Ser | |
| XM_006719242.2:c.3733G>A | XP_006719305.2:p.Gly1245Ser | |
| XM_011537928.1:c.3733G>A | XP_011536230.1:p.Gly1245Ser | |
| XM_011537929.1:c.3733G>A | XP_011536231.1:p.Gly1245Ser | |
| XM_011537930.1:c.3733G>A | XP_011536232.1:p.Gly1245Ser | |
| XM_011537931.1:c.3733G>A | XP_011536233.1:p.Gly1245Ser | |
| XM_011537932.1:c.3733G>A | XP_011536234.1:p.Gly1245Ser | |
| XM_011537933.1:c.3733G>A | XP_011536235.1:p.Gly1245Ser | |
| XM_011537934.1:c.3730G>A | XP_011536236.1:p.Gly1244Ser | |
| XM_011537935.1:c.2677G>A | XP_011536237.1:p.Gly893Ser | |
| XM_017018828.1:c.3733G>A | XP_016874317.1:p.Gly1245Ser | |
| XM_017018829.1:c.3730G>A | XP_016874318.1:p.Gly1244Ser | |
| XM_017018830.1:c.3523G>A | XP_016874319.1:p.Gly1175Ser | |
| XM_017018831.2:c.3043G>A | XP_016874320.1:p.Gly1015Ser | |
| NM_001844.5:c.3589G>A MANE Select | NP_001835.3:p.Gly1197Ser | |
| NM_033150.3:c.3382G>A | NP_149162.2:p.Gly1128Ser |