Linked Data
dbSNP Id:
rs1045280
ExAC:
17:4622638 C / T
gnomAD v2:
17-4622638-C-T
gnomAD v3:
17-4719343-C-T
gnomAD v4:
17-4719343-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4719343C>T , CM000679.2:g.4719343C>T | GRCh38 |
| NC_000017.10:g.4622638C>T , CM000679.1:g.4622638C>T | GRCh37 |
| NC_000017.9:g.4569387C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269260.7:c.840C>T MANE Select | ENSP00000269260.2:p.Ser280= | |
| ENST00000269260.6:c.840C>T | ENSP00000269260.2:p.Ser280= | |
| ENST00000346341.6:c.795C>T | ENSP00000341895.2:p.Ser265= | |
| ENST00000381488.10:c.795C>T | ENSP00000370898.6:p.Ser265= | |
| ENST00000412477.7:c.903C>T | ENSP00000403701.3:p.Ser301= | |
| ENST00000571206.1:c.264C>T | ENSP00000460607.1:p.Ser88= | |
| ENST00000571428.5:c.264C>T | ENSP00000465877.1:p.Ser88= | |
| ENST00000572457.5:c.264C>T | ENSP00000465296.1:p.Ser88= | |
| ENST00000574502.5:c.*318C>T | ENSP00000458371.1:n.*318C>T | |
| ENST00000574954.5:c.264C>T | ENSP00000466344.1:p.Ser88= | |
| ENST00000575877.5:c.786+54C>T | ENSP00000466857.1:n.786+54C>T | |
| ENST00000576235.1:c.722C>T | ENSP00000460879.1:n.722C>T | |
| NM_001257328.1:c.903C>T | NP_001244257.1:p.Ser301= | |
| NM_001257329.1:c.786+54C>T | NP_001244258.1:n.786+54C>T | |
| NM_001257330.1:c.840C>T | NP_001244259.1:p.Ser280= | |
| NM_001257331.1:c.795C>T | NP_001244260.1:p.Ser265= | |
| NM_004313.3:c.840C>T | NP_004304.1:p.Ser280= | |
| NM_199004.1:c.795C>T | NP_945355.1:p.Ser265= | |
| NR_047516.1:n.1037C>T | ||
| XM_006721520.1:c.264C>T | XP_006721583.1:p.Ser88= | |
| XM_006721521.1:c.264C>T | XP_006721584.1:p.Ser88= | |
| XM_011523858.1:c.933C>T | XP_011522160.1:p.Ser311= | |
| XM_011523859.1:c.888C>T | XP_011522161.1:p.Ser296= | |
| NM_001330064.1:c.264C>T | NP_001316993.1:p.Ser88= | |
| XM_011523858.2:c.933C>T | XP_011522160.1:p.Ser311= | |
| XM_017024645.1:c.264C>T | XP_016880134.1:p.Ser88= | |
| XM_024450751.1:c.840C>T | XP_024306519.1:p.Ser280= | |
| XM_024450752.1:c.264C>T | XP_024306520.1:p.Ser88= | |
| XM_024450753.1:c.264C>T | XP_024306521.1:p.Ser88= | |
| XR_002958006.1:n.847C>T | ||
| XR_002958007.1:n.847C>T | ||
| NM_004313.4:c.840C>T MANE Select | NP_004304.1:p.Ser280= | |
| NM_001257328.2:c.903C>T | NP_001244257.1:p.Ser301= | |
| NM_001257329.2:c.786+54C>T | NP_001244258.1:n.786+54C>T | |
| NM_001257330.2:c.840C>T | NP_001244259.1:p.Ser280= | |
| NM_001257331.2:c.795C>T | NP_001244260.1:p.Ser265= | |
| NM_001330064.2:c.264C>T | NP_001316993.1:p.Ser88= | |
| NM_199004.2:c.795C>T | NP_945355.1:p.Ser265= | |
| NR_047516.2:n.899C>T |