Linked Data
ClinVar Variation Id:
31556
dbSNP Id:
rs387907159
ExAC:
17:56772543 C / T
gnomAD v2:
17-56772543-C-T
gnomAD v4:
17-58695182-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58695182C>T , CM000679.2:g.58695182C>T | GRCh38 |
| NC_000017.10:g.56772543C>T , CM000679.1:g.56772543C>T | GRCh37 |
| NC_000017.9:g.54127542C>T | NCBI36 |
| NG_023199.1:g.7581C>T , LRG_314:g.7581C>T | |
| NG_047169.1:g.1898G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.46C>T | ENSP00000464056.2:p.Gln16Ter | |
| ENST00000697675.1:n.1491C>T | ||
| ENST00000697676.1:n.457C>T | ||
| ENST00000697677.1:n.1478C>T | ||
| ENST00000697678.1:n.299C>T | ||
| ENST00000697679.1:n.1471C>T | ||
| ENST00000697680.1:c.*1261C>T | ENSP00000513392.1:n.*1261C>T | |
| ENST00000697681.1:c.*1261C>T | ENSP00000513393.1:n.*1261C>T | |
| ENST00000697683.1:c.*1261C>T | ENSP00000513395.1:n.*1261C>T | |
| ENST00000697684.1:n.457C>T | ||
| ENST00000697685.1:c.*1261C>T | ENSP00000513396.1:n.*1261C>T | |
| ENST00000697686.1:c.46C>T | ENSP00000513397.1:p.Gln16Ter | |
| ENST00000697687.1:n.443C>T | ||
| ENST00000697688.1:n.443C>T | ||
| ENST00000697689.1:c.*1100C>T | ENSP00000513398.1:n.*1100C>T | |
| ENST00000697690.1:c.397C>T | ENSP00000513399.1:p.Gln133Ter | |
| ENST00000697691.1:c.*369C>T | ENSP00000513400.1:n.*369C>T | |
| ENST00000697692.1:c.*409C>T | ENSP00000513401.1:n.*409C>T | |
| ENST00000697693.1:n.1172C>T | ||
| ENST00000697694.1:c.46C>T | ENSP00000513402.1:p.Gln16Ter | |
| ENST00000697695.1:n.1004C>T | ||
| ENST00000337432.9:c.397C>T MANE Select | ENSP00000336701.4:p.Gln133Ter | |
| ENST00000337432.8:c.397C>T | ENSP00000336701.4:p.Gln133Ter | |
| ENST00000413590.5:c.35C>T | ||
| ENST00000421782.3:c.397C>T | ENSP00000391450.2:p.Gln133Ter | |
| ENST00000425173.5:c.193C>T | ENSP00000407282.1:p.Gln65Ter | |
| ENST00000461271.5:c.46C>T | ENSP00000464056.1:p.Gln16Ter | |
| ENST00000475762.5:c.*1100C>T | ENSP00000432421.1:n.*1100C>T | |
| ENST00000482007.5:c.397C>T | ENSP00000433332.1:p.Gln133Ter | |
| ENST00000486827.1:c.*1261C>T | ENSP00000436761.1:n.*1261C>T | |
| ENST00000487525.5:c.397C>T | ENSP00000431637.1:p.Gln133Ter | |
| ENST00000487921.5:n.309C>T | ||
| ENST00000583539.5:c.397C>T | ENSP00000463121.1:p.Gln133Ter | |
| ENST00000584617.5:c.127-1511C>T | ||
| ENST00000622327.4:c.133C>T | ENSP00000482326.1:p.Gln45Ter | |
| NM_002876.3:c.397C>T | NP_002867.1:p.Gln133Ter | |
| NM_058216.2:c.397C>T | NP_478123.1:p.Gln133Ter | |
| NR_103872.1:n.468C>T | ||
| NR_103873.1:n.365C>T | ||
| XM_006722001.2:c.397C>T | XP_006722064.1:p.Gln133Ter | |
| XM_006722002.2:c.397C>T | XP_006722065.1:p.Gln133Ter | |
| XM_006722004.2:c.46C>T | XP_006722067.1:p.Gln16Ter | |
| XM_006722005.2:c.46C>T | XP_006722068.1:p.Gln16Ter | |
| XM_011525092.1:c.46C>T | XP_011523394.1:p.Gln16Ter | |
| XM_011525093.1:c.46C>T | XP_011523395.1:p.Gln16Ter | |
| XM_011525094.1:c.46C>T | XP_011523396.1:p.Gln16Ter | |
| XR_934513.1:n.470C>T | ||
| XR_934514.1:n.470C>T | ||
| XM_006722001.4:c.397C>T | XP_006722064.1:p.Gln133Ter | |
| XM_006722002.4:c.397C>T | XP_006722065.1:p.Gln133Ter | |
| XM_006722004.3:c.46C>T | XP_006722067.1:p.Gln16Ter | |
| XM_006722005.3:c.46C>T | XP_006722068.1:p.Gln16Ter | |
| XM_011525092.2:c.46C>T | XP_011523394.1:p.Gln16Ter | |
| XM_011525093.2:c.46C>T | XP_011523395.1:p.Gln16Ter | |
| XM_011525094.2:c.46C>T | XP_011523396.1:p.Gln16Ter | |
| XM_017024914.1:c.46C>T | XP_016880403.1:p.Gln16Ter | |
| XM_017024915.1:c.46C>T | XP_016880404.1:p.Gln16Ter | |
| XM_017024916.1:c.46C>T | XP_016880405.1:p.Gln16Ter | |
| XM_017024917.1:c.46C>T | XP_016880406.1:p.Gln16Ter | |
| XM_017024918.2:c.46C>T | XP_016880407.1:p.Gln16Ter | |
| XM_017024919.1:c.46C>T | XP_016880408.1:p.Gln16Ter | |
| XR_934513.3:n.901C>T | ||
| XR_934514.3:n.901C>T | ||
| NM_058216.3:c.397C>T MANE Select | NP_478123.1:p.Gln133Ter | |
| NR_103872.2:n.439C>T | ||
| NM_002876.4:c.397C>T | NP_002867.1:p.Gln133Ter |