Linked Data
ClinVar Variation Id:
949022
dbSNP Id:
rs200309474
ExAC:
17:16875349 C / A
gnomAD v2:
17-16875349-C-A
gnomAD v3:
17-16972035-C-A
gnomAD v4:
17-16972035-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16972035C>A , CM000679.2:g.16972035C>A | GRCh38 |
| NC_000017.10:g.16875349C>A , CM000679.1:g.16875349C>A | GRCh37 |
| NC_000017.9:g.16816074C>A | NCBI36 |
| NG_007281.1:g.5054G>T , LRG_120:g.5054G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.41G>T MANE Select | ENSP00000261652.2:p.Arg14Leu | |
| ENST00000261652.6:c.41G>T | ENSP00000261652.2:p.Arg14Leu | |
| ENST00000579315.5:c.41G>T | ENSP00000464069.1:p.Arg14Leu | |
| ENST00000581616.2:n.44G>T | ||
| ENST00000582931.5:n.83G>T | ||
| ENST00000583789.1:c.41G>T | ENSP00000462952.1:p.Arg14Leu | |
| ENST00000584950.5:c.41G>T | ENSP00000463582.1:p.Arg14Leu | |
| NM_012452.2:c.41G>T , LRG_120t1:c.41G>T | NP_036584.1:p.Arg14Leu | |
| NM_012452.3:c.41G>T MANE Select | NP_036584.1:p.Arg14Leu |