Linked Data
ClinVar Variation Id:
935
ClinVar RCV Id:
RCV000000984
RCV000624609
RCV000669063
RCV001068811
RCV001262449
RCV001559063
RCV004546408
dbSNP Id:
rs72555393
ExAC:
3:33114036 G / A
gnomAD v2:
3-33114036-G-A
gnomAD v3:
3-33072544-G-A
gnomAD v4:
3-33072544-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33072544G>A , CM000665.2:g.33072544G>A | GRCh38 |
| NC_000003.11:g.33114036G>A , CM000665.1:g.33114036G>A | GRCh37 |
| NC_000003.10:g.33089040G>A | NCBI36 |
| NG_009005.1:g.29659C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.245C>T MANE Select | ENSP00000306920.4:p.Thr82Met | |
| ENST00000307363.9:c.245C>T | ENSP00000306920.4:p.Thr82Met | |
| ENST00000307377.12:c.245C>T | ENSP00000305920.8:p.Thr82Ile | |
| ENST00000399402.7:c.155C>T | ENSP00000382333.2:p.Thr52Met | |
| ENST00000415454.1:c.76-14275C>T | ENSP00000411813.1:n.76-14275C>T | |
| ENST00000436768.1:c.389C>T | ENSP00000387989.1:p.Thr130Met | |
| ENST00000438227.1:c.76-6987C>T | ENSP00000401250.1:n.76-6987C>T | |
| ENST00000440656.1:c.-148-3574C>T | ENSP00000411769.1:n.-148-3574C>T | |
| ENST00000446732.5:c.155C>T | ENSP00000407365.1:p.Thr52Ile | |
| ENST00000450835.1:c.155C>T | ENSP00000403264.1:p.Thr52Met | |
| ENST00000464355.1:n.203C>T | ||
| ENST00000482097.5:n.109-18995C>T | ||
| ENST00000485698.5:n.137-18995C>T | ||
| ENST00000498537.5:n.133-18995C>T | ||
| NM_000404.2:c.245C>T | NP_000395.2:p.Thr82Met | |
| NM_000404.3:c.245C>T | NP_000395.2:p.Thr82Met | |
| NM_001079811.1:c.155C>T | NP_001073279.1:p.Thr52Met | |
| NM_001079811.2:c.155C>T | NP_001073279.1:p.Thr52Met | |
| NM_001135602.1:c.245C>T | NP_001129074.1:p.Thr82Ile | |
| NM_001135602.2:c.245C>T | NP_001129074.1:p.Thr82Ile | |
| NM_001317040.1:c.389C>T | NP_001303969.1:p.Thr130Met | |
| NM_000404.4:c.245C>T MANE Select | NP_000395.3:p.Thr82Met | |
| NM_001079811.3:c.155C>T | NP_001073279.2:p.Thr52Met | |
| NM_001135602.3:c.245C>T | NP_001129074.2:p.Thr82Ile | |
| NM_001317040.2:c.389C>T | NP_001303969.2:p.Thr130Met | |
| NM_001393580.1:c.245C>T | NP_001380509.1:p.Thr82Met |