Linked Data
ClinVar Variation Id:
322836
ClinVar RCV Id:
RCV000325694
RCV000382522
RCV001271645
RCV001532291
RCV002265730
RCV002521102
RCV003910226
dbSNP Id:
rs144751390
ExAC:
17:3550792 C / T
gnomAD v2:
17-3550792-C-T
gnomAD v3:
17-3647498-C-T
gnomAD v4:
17-3647498-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3647498C>T , CM000679.2:g.3647498C>T | GRCh38 |
| NC_000017.10:g.3550792C>T , CM000679.1:g.3550792C>T | GRCh37 |
| NC_000017.9:g.3497541C>T | NCBI36 |
| NG_012489.1:g.16031C>T | |
| NG_012489.2:g.16031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000046640.9:c.116C>T MANE Select | ENSP00000046640.4:p.Ser39Leu | |
| ENST00000381870.8:c.116C>T | ENSP00000371294.3:p.Ser39Leu | |
| ENST00000399306.7:c.116C>T | ENSP00000382245.2:p.Ser39Leu | |
| ENST00000488623.6:c.-612C>T | ENSP00000501016.1:n.-612C>T | |
| ENST00000574776.6:c.-113+7231C>T | ENSP00000461118.2:n.-113+7231C>T | |
| ENST00000673669.1:c.-241C>T | ENSP00000501123.1:n.-241C>T | |
| ENST00000673965.1:c.116C>T | ENSP00000500995.1:p.Ser39Leu | |
| ENST00000046640.7:c.116C>T | ENSP00000046640.3:p.Ser39Leu | |
| ENST00000381870.7:c.116C>T | ENSP00000371294.3:p.Ser39Leu | |
| ENST00000399306.6:c.116C>T | ENSP00000382245.2:p.Ser39Leu | |
| ENST00000452111.5:c.116C>T | ENSP00000408652.1:p.Ser39Leu | |
| ENST00000467663.5:c.116C>T | ENSP00000461056.1:p.Ser39Leu | |
| ENST00000488623.5:n.337C>T | ||
| ENST00000495445.5:n.430C>T | ||
| ENST00000574218.1:c.-216-7500C>T | ENSP00000458912.1:n.-216-7500C>T | |
| ENST00000574776.5:c.-113+7231C>T | ENSP00000461118.1:n.-113+7231C>T | |
| ENST00000576979.1:c.116C>T | ENSP00000458457.1:p.Ser39Leu | |
| NM_001031681.2:c.116C>T | NP_001026851.2:p.Ser39Leu | |
| NM_004937.2:c.116C>T | NP_004928.2:p.Ser39Leu | |
| XM_005256485.1:c.116C>T | XP_005256542.1:p.Ser39Leu | |
| XM_006721463.1:c.116C>T | XP_006721526.1:p.Ser39Leu | |
| XM_006721464.1:c.-241C>T | XP_006721527.1:n.-241C>T | |
| XM_011523691.1:c.116C>T | XP_011521993.1:p.Ser39Leu | |
| XM_011523692.1:c.-326C>T | XP_011521994.1:n.-326C>T | |
| XR_934003.1:n.709C>T | ||
| XR_934164.1:n.431-2323G>A | ||
| XM_005256485.3:c.116C>T | XP_005256542.1:p.Ser39Leu | |
| XM_006721463.3:c.116C>T | XP_006721526.1:p.Ser39Leu | |
| XM_006721464.2:c.-241C>T | XP_006721527.1:n.-241C>T | |
| XM_011523691.2:c.116C>T | XP_011521993.1:p.Ser39Leu | |
| XM_011523692.2:c.-326C>T | XP_011521994.1:n.-326C>T | |
| XM_017024254.1:c.-217+7231C>T | XP_016879743.1:n.-217+7231C>T | |
| XM_017024255.1:c.-241C>T | XP_016879744.1:n.-241C>T | |
| XM_017024256.1:c.-326C>T | XP_016879745.1:n.-326C>T | |
| XM_017024257.1:c.-217+7231C>T | XP_016879746.1:n.-217+7231C>T | |
| XM_017024258.1:c.-241C>T | XP_016879747.1:n.-241C>T | |
| XR_001752758.1:n.453-2323G>A | ||
| XR_001752759.1:n.325-2323G>A | ||
| XR_001752760.1:n.453-2323G>A | ||
| XR_001752761.2:n.452+2666G>A | ||
| XR_002958115.1:n.140-2323G>A | ||
| XR_934164.2:n.453-2323G>A | ||
| NM_001374492.1:c.116C>T | NP_001361421.1:p.Ser39Leu | |
| NM_001374493.1:c.-241C>T | NP_001361422.1:n.-241C>T | |
| NM_001374494.1:c.-326C>T | NP_001361423.1:n.-326C>T | |
| NM_001374495.1:c.-217+7231C>T | NP_001361424.1:n.-217+7231C>T | |
| NM_001374496.1:c.-241C>T | NP_001361425.1:n.-241C>T | |
| NM_004937.3:c.116C>T MANE Select | NP_004928.2:p.Ser39Leu | |
| NM_001031681.3:c.116C>T | NP_001026851.2:p.Ser39Leu |