Linked Data
ClinVar Variation Id:
376904
ClinVar RCV Id:
RCV000425066
dbSNP Id:
rs1006854230
gnomAD v4:
12-50678760-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50678760G>C , CM000674.2:g.50678760G>C | GRCh38 |
| NC_000012.11:g.51072543G>C , CM000674.1:g.51072543G>C | GRCh37 |
| NC_000012.10:g.49358810G>C | NCBI36 |
| NG_021196.1:g.178776G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301180.10:c.998G>C MANE Select | ENSP00000301180.5:p.Cys333Ser | |
| ENST00000301180.9:c.998G>C | ENSP00000301180.5:p.Cys333Ser | |
| ENST00000546719.1:n.775G>C | ||
| ENST00000549620.5:n.1154G>C | ||
| NM_173602.2:c.998G>C | NP_775873.2:p.Cys333Ser | |
| XM_005269044.1:c.1001G>C | XP_005269101.1:p.Cys334Ser | |
| XM_006719520.2:c.1028G>C | XP_006719583.1:p.Cys343Ser | |
| XM_006719521.2:c.815G>C | XP_006719584.1:p.Cys272Ser | |
| XM_006719522.2:c.647G>C | XP_006719585.1:p.Cys216Ser | |
| XM_011538594.1:c.1031G>C | XP_011536896.1:p.Cys344Ser | |
| XM_011538595.1:c.1031G>C | XP_011536897.1:p.Cys344Ser | |
| XM_011538596.1:c.818G>C | XP_011536898.1:p.Cys273Ser | |
| NM_173602.3:c.998G>C MANE Select | NP_775873.2:p.Cys333Ser |