Linked Data
ClinVar Variation Id:
17285
dbSNP Id:
rs72645331
gnomAD v4:
17-50196661-C-A
PubMed:
PMID:2794057
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50196661C>A , CM000679.2:g.50196661C>A | GRCh38 |
| NC_000017.10:g.48274022C>A , CM000679.1:g.48274022C>A | GRCh37 |
| NC_000017.9:g.45629021C>A | NCBI36 |
| NG_007400.1:g.9979G>T , LRG_1:g.9979G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.814G>T MANE Select | ENSP00000225964.6:p.Gly272Cys | |
| ENST00000225964.9:c.814G>T | ENSP00000225964.5:p.Gly272Cys | |
| ENST00000495677.1:n.541G>T | ||
| NM_000088.3:c.814G>T , LRG_1t1:c.814G>T | NP_000079.2:p.Gly272Cys | |
| XM_005257058.3:c.814G>T | XP_005257115.2:p.Gly272Cys | |
| XM_005257059.3:c.814G>T | XP_005257116.2:p.Gly272Cys | |
| XM_011524341.1:c.814G>T | XP_011522643.1:p.Gly272Cys | |
| XM_005257058.4:c.814G>T | XP_005257115.2:p.Gly272Cys | |
| XM_005257059.4:c.814G>T | XP_005257116.2:p.Gly272Cys | |
| NM_000088.4:c.814G>T MANE Select | NP_000079.2:p.Gly272Cys |