Linked Data
ClinVar Variation Id:
186543
ClinVar RCV Id:
RCV000166154
RCV000236041
RCV000227701
RCV000662381
RCV002291582
RCV001844059
RCV004535124
dbSNP Id:
rs185057307
ExAC:
17:56801418 G / T
gnomAD v2:
17-56801418-G-T
gnomAD v3:
17-58724057-G-T
gnomAD v4:
17-58724057-G-T
PubMed:
PMID:25980754
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58724057G>T , CM000679.2:g.58724057G>T | GRCh38 |
| NC_000017.10:g.56801418G>T , CM000679.1:g.56801418G>T | GRCh37 |
| NC_000017.9:g.54156417G>T | NCBI36 |
| NG_023199.1:g.36456G>T , LRG_314:g.36456G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.571G>T | ENSP00000464056.2:p.Ala191Ser | |
| ENST00000697680.1:c.*1886G>T | ENSP00000513392.1:n.*1886G>T | |
| ENST00000697681.1:c.*2083G>T | ENSP00000513393.1:n.*2083G>T | |
| ENST00000697683.1:c.*1786G>T | ENSP00000513395.1:n.*1786G>T | |
| ENST00000697684.1:n.982G>T | ||
| ENST00000697685.1:c.*1619G>T | ENSP00000513396.1:n.*1619G>T | |
| ENST00000697686.1:c.571G>T | ENSP00000513397.1:p.Ala191Ser | |
| ENST00000697687.1:n.801G>T | ||
| ENST00000697688.1:n.968G>T | ||
| ENST00000697689.1:c.*1440+3245G>T | ENSP00000513398.1:n.*1440+3245G>T | |
| ENST00000697690.1:c.904+3245G>T | ENSP00000513399.1:n.904+3245G>T | |
| ENST00000697691.1:c.*894G>T | ENSP00000513400.1:n.*894G>T | |
| ENST00000697692.1:c.*934G>T | ENSP00000513401.1:n.*934G>T | |
| ENST00000697694.1:c.571G>T | ENSP00000513402.1:p.Ala191Ser | |
| ENST00000697695.1:n.1529G>T | ||
| ENST00000337432.9:c.922G>T MANE Select | ENSP00000336701.4:p.Ala308Ser | |
| ENST00000337432.8:c.922G>T | ENSP00000336701.4:p.Ala308Ser | |
| ENST00000413590.5:c.560G>T | ||
| ENST00000475762.5:c.*1558G>T | ENSP00000432421.1:n.*1558G>T | |
| ENST00000482007.5:c.*350G>T | ENSP00000433332.1:n.*350G>T | |
| ENST00000487525.5:c.*495G>T | ENSP00000431637.1:n.*495G>T | |
| ENST00000578151.1:n.239+3245G>T | ||
| ENST00000581221.5:n.437G>T | ||
| ENST00000583539.5:c.922G>T | ENSP00000463121.1:p.Ala308Ser | |
| ENST00000584617.5:c.644G>T | ||
| ENST00000584804.1:c.199+3245G>T | ENSP00000463658.1:n.199+3245G>T | |
| NM_058216.2:c.922G>T | NP_478123.1:p.Ala308Ser | |
| NR_103872.1:n.826G>T | ||
| XM_006722001.2:c.922G>T | XP_006722064.1:p.Ala308Ser | |
| XM_006722002.2:c.904+3245G>T | XP_006722065.1:n.904+3245G>T | |
| XM_006722004.2:c.571G>T | XP_006722067.1:p.Ala191Ser | |
| XM_006722005.2:c.571G>T | XP_006722068.1:p.Ala191Ser | |
| XM_011525092.1:c.571G>T | XP_011523394.1:p.Ala191Ser | |
| XM_011525093.1:c.571G>T | XP_011523395.1:p.Ala191Ser | |
| XM_011525094.1:c.571G>T | XP_011523396.1:p.Ala191Ser | |
| XR_934513.1:n.1140G>T | ||
| XR_934514.1:n.1140G>T | ||
| XM_006722001.4:c.922G>T | XP_006722064.1:p.Ala308Ser | |
| XM_006722002.4:c.904+3245G>T | XP_006722065.1:n.904+3245G>T | |
| XM_006722004.3:c.571G>T | XP_006722067.1:p.Ala191Ser | |
| XM_006722005.3:c.571G>T | XP_006722068.1:p.Ala191Ser | |
| XM_011525092.2:c.571G>T | XP_011523394.1:p.Ala191Ser | |
| XM_011525093.2:c.571G>T | XP_011523395.1:p.Ala191Ser | |
| XM_011525094.2:c.571G>T | XP_011523396.1:p.Ala191Ser | |
| XM_017024914.1:c.571G>T | XP_016880403.1:p.Ala191Ser | |
| XM_017024915.1:c.571G>T | XP_016880404.1:p.Ala191Ser | |
| XM_017024916.1:c.571G>T | XP_016880405.1:p.Ala191Ser | |
| XM_017024917.1:c.571G>T | XP_016880406.1:p.Ala191Ser | |
| XM_017024918.2:c.571G>T | XP_016880407.1:p.Ala191Ser | |
| XM_017024919.1:c.553+3245G>T | XP_016880408.1:n.553+3245G>T | |
| XR_934513.3:n.1571G>T | ||
| XR_934514.3:n.1571G>T | ||
| NM_058216.3:c.922G>T MANE Select | NP_478123.1:p.Ala308Ser | |
| NR_103872.2:n.797G>T |