Linked Data
ClinVar Variation Id:
976303
dbSNP Id:
rs1473372899
gnomAD v2:
17-62019273-G-A
gnomAD v4:
17-63941913-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941913G>A , CM000679.2:g.63941913G>A | GRCh38 |
| NC_000017.10:g.62019273G>A , CM000679.1:g.62019273G>A | GRCh37 |
| NC_000017.9:g.59373005G>A | NCBI36 |
| NG_011699.1:g.36006C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.4369C>T MANE Select | ENSP00000396320.1:p.Arg1457Cys | |
| ENST00000578147.5:c.4369C>T | ENSP00000463963.1:p.Arg1457Cys | |
| NM_000334.4:c.4369C>T MANE Select | NP_000325.4:p.Arg1457Cys | |
| XM_005257566.3:c.4369C>T | XP_005257623.1:p.Arg1457Cys |