Linked Data
ClinVar Variation Id:
523492
ClinVar RCV Id:
RCV000626898
dbSNP Id:
rs1360494485
gnomAD v2:
20-2635476-G-C
gnomAD v3:
20-2654830-G-C
gnomAD v4:
20-2654830-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2654830G>C , CM000682.2:g.2654830G>C | GRCh38 |
| NC_000020.10:g.2635476G>C , CM000682.1:g.2635476G>C | GRCh37 |
| NC_000020.9:g.2583476G>C | NCBI36 |
| NG_032136.1:g.7299G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329276.10:c.452G>C MANE Select | ENSP00000370589.3:p.Ser151Thr | |
| ENST00000651302.1:c.452G>C | ENSP00000498831.1:p.Ser151Thr | |
| ENST00000329276.9:c.452G>C | ENSP00000370589.3:p.Ser151Thr | |
| ENST00000445139.1:c.452G>C | ENSP00000388497.1:p.Ser151Thr | |
| ENST00000460258.5:n.532G>C | ||
| ENST00000469588.5:n.645G>C | ||
| ENST00000480992.5:n.42G>C | ||
| ENST00000494697.5:n.614G>C | ||
| ENST00000496775.5:n.424G>C | ||
| NM_006392.3:c.452G>C | NP_006383.2:p.Ser151Thr | |
| NR_027700.2:n.581G>C | ||
| NR_145428.1:n.581G>C | ||
| NM_006392.4:c.452G>C MANE Select | NP_006383.2:p.Ser151Thr | |
| NR_027700.3:n.481G>C | ||
| NR_145428.2:n.481G>C |