Linked Data
ClinVar Variation Id:
1393254
ClinVar RCV Id:
RCV001882363
dbSNP Id:
rs1727431574
gnomAD v4:
4-127643641-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127643641G>C , CM000666.2:g.127643641G>C | GRCh38 |
| NC_000004.11:g.128564796G>C , CM000666.1:g.128564796G>C | GRCh37 |
| NC_000004.10:g.128784246G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335251.11:c.267G>C MANE Select | ENSP00000334003.5:p.Arg89Ser | |
| ENST00000335251.10:c.267G>C | ENSP00000334003.5:p.Arg89Ser | |
| ENST00000503626.5:c.267G>C | ENSP00000426287.1:p.Arg89Ser | |
| ENST00000503952.5:c.267G>C | ENSP00000421995.1:p.Arg89Ser | |
| ENST00000504491.1:c.210G>C | ENSP00000422550.1:p.Arg70Ser | |
| NM_015693.3:c.267G>C | NP_056508.2:p.Arg89Ser | |
| XM_011531844.1:c.267G>C | XP_011530146.1:p.Arg89Ser | |
| XM_011531845.1:c.267G>C | XP_011530147.1:p.Arg89Ser | |
| XM_011531846.1:c.210G>C | XP_011530148.1:p.Arg70Ser | |
| XM_011531849.1:c.267G>C | XP_011530151.1:p.Arg89Ser | |
| XM_011531850.1:c.267G>C | XP_011530152.1:p.Arg89Ser | |
| XM_011531851.1:c.267G>C | XP_011530153.1:p.Arg89Ser | |
| XR_938720.1:n.370G>C | ||
| XM_011531844.3:c.267G>C | XP_011530146.1:p.Arg89Ser | |
| XM_011531845.3:c.267G>C | XP_011530147.1:p.Arg89Ser | |
| XM_011531849.3:c.267G>C | XP_011530151.1:p.Arg89Ser | |
| XM_011531850.3:c.267G>C | XP_011530152.1:p.Arg89Ser | |
| XM_011531851.3:c.267G>C | XP_011530153.1:p.Arg89Ser | |
| XM_017008026.2:c.267G>C | XP_016863515.1:p.Arg89Ser | |
| XR_001741201.1:n.342G>C | ||
| NM_015693.4:c.267G>C MANE Select | NP_056508.2:p.Arg89Ser |