Linked Data
ClinVar Variation Id:
2325679
ClinVar RCV Id:
RCV002939507
dbSNP Id:
rs1400728221
gnomAD v2:
17-16875367-C-T
gnomAD v4:
17-16972053-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16972053C>T , CM000679.2:g.16972053C>T | GRCh38 |
| NC_000017.10:g.16875367C>T , CM000679.1:g.16875367C>T | GRCh37 |
| NC_000017.9:g.16816092C>T | NCBI36 |
| NG_007281.1:g.5036G>A , LRG_120:g.5036G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.23G>A MANE Select | ENSP00000261652.2:p.Arg8Lys | |
| ENST00000261652.6:c.23G>A | ENSP00000261652.2:p.Arg8Lys | |
| ENST00000579315.5:c.23G>A | ENSP00000464069.1:p.Arg8Lys | |
| ENST00000581616.2:n.26G>A | ||
| ENST00000582931.5:n.65G>A | ||
| ENST00000583789.1:c.23G>A | ENSP00000462952.1:p.Arg8Lys | |
| ENST00000584950.5:c.23G>A | ENSP00000463582.1:p.Arg8Lys | |
| NM_012452.2:c.23G>A , LRG_120t1:c.23G>A | NP_036584.1:p.Arg8Lys | |
| NM_012452.3:c.23G>A MANE Select | NP_036584.1:p.Arg8Lys |