Linked Data
ClinVar Variation Id:
99303
ClinVar RCV Id:
RCV000085656
RCV000177509
RCV000210286
RCV000623715
RCV001002827
RCV001075849
RCV001542561
dbSNP Id:
rs61750152
ExAC:
1:94490567 G / A
gnomAD v2:
1-94490567-G-A
gnomAD v3:
1-94025011-G-A
gnomAD v4:
1-94025011-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94025011G>A , CM000663.2:g.94025011G>A | GRCh38 |
| NC_000001.10:g.94490567G>A , CM000663.1:g.94490567G>A | GRCh37 |
| NC_000001.9:g.94263155G>A | NCBI36 |
| NG_009073.1:g.101139C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4577C>T MANE Select | ENSP00000359245.3:p.Thr1526Met | |
| ENST00000370225.3:c.4577C>T | ENSP00000359245.3:p.Thr1526Met | |
| ENST00000460514.1:n.71C>T | ||
| ENST00000536513.5:c.953C>T | ENSP00000439707.2:p.Thr318Met | |
| NM_000350.2:c.4577C>T | NP_000341.2:p.Thr1526Met | |
| NM_000350.3:c.4577C>T MANE Select | NP_000341.2:p.Thr1526Met |