Linked Data
ClinVar Variation Id:
2291613
ClinVar RCV Id:
RCV002864599
dbSNP Id:
rs886052653
gnomAD v4:
17-16948982-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16948982C>A , CM000679.2:g.16948982C>A | GRCh38 |
| NC_000017.10:g.16852296C>A , CM000679.1:g.16852296C>A | GRCh37 |
| NC_000017.9:g.16793021C>A | NCBI36 |
| NG_007281.1:g.28107G>T , LRG_120:g.28107G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.201G>T MANE Select | ENSP00000261652.2:p.Arg67Ser | |
| ENST00000261652.6:c.201G>T | ENSP00000261652.2:p.Arg67Ser | |
| ENST00000579315.5:c.201G>T | ENSP00000464069.1:p.Arg67Ser | |
| ENST00000581616.2:n.204G>T | ||
| ENST00000582931.5:n.105G>T | ||
| ENST00000583789.1:c.63G>T | ENSP00000462952.1:p.Trp21Cys | |
| ENST00000584950.5:c.63G>T | ENSP00000463582.1:p.Trp21Cys | |
| NM_012452.2:c.201G>T , LRG_120t1:c.201G>T | NP_036584.1:p.Arg67Ser | |
| NM_012452.3:c.201G>T MANE Select | NP_036584.1:p.Arg67Ser |