Linked Data
ClinVar Variation Id:
373720
dbSNP Id:
rs200714434
ExAC:
2:202503751 G / A
gnomAD v2:
2-202503751-G-A
gnomAD v3:
2-201639028-G-A
gnomAD v4:
2-201639028-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201639028G>A , CM000664.2:g.201639028G>A | GRCh38 |
| NC_000002.11:g.202503751G>A , CM000664.1:g.202503751G>A | GRCh37 |
| NC_000002.10:g.202211996G>A | NCBI36 |
| NG_032049.1:g.9502C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621467.5:c.-338C>T | ENSP00000480508.2:n.-338C>T | |
| ENST00000409883.7:c.97C>T MANE Select | ENSP00000386264.2:p.Arg33Cys | |
| ENST00000286196.9:c.18C>T | ENSP00000286196.5:p.Val6= | |
| ENST00000409444.6:c.73C>T | ENSP00000387203.2:p.Arg25Cys | |
| ENST00000409883.6:c.97C>T | ENSP00000386264.2:p.Arg33Cys | |
| ENST00000432684.6:c.97C>T | ENSP00000413230.2:p.Arg33Cys | |
| ENST00000444047.6:c.97C>T | ENSP00000402681.2:p.Arg33Cys | |
| ENST00000463205.2:n.100C>T | ||
| ENST00000480124.1:n.4C>T | ||
| ENST00000489550.5:n.110C>T | ||
| ENST00000621467.4:c.73C>T | ENSP00000480508.1:p.Arg25Cys | |
| NM_001044385.2:c.97C>T | NP_001037850.1:p.Arg33Cys | |
| NM_152388.3:c.73C>T | NP_689601.2:p.Arg25Cys | |
| NM_001044385.3:c.97C>T MANE Select | NP_001037850.1:p.Arg33Cys | |
| NM_152388.4:c.73C>T | NP_689601.2:p.Arg25Cys |