Linked Data
ClinVar Variation Id:
2960881
ClinVar RCV Id:
RCV003817616
dbSNP Id:
rs753353264
ExAC:
17:39777876 C / A
gnomAD v2:
17-39777876-C-A
gnomAD v3:
17-41621624-C-A
gnomAD v4:
17-41621624-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41621624C>A , CM000679.2:g.41621624C>A | GRCh38 |
| NC_000017.10:g.39777876C>A , CM000679.1:g.39777876C>A | GRCh37 |
| NC_000017.9:g.37031402C>A | NCBI36 |
| NG_008625.1:g.8007G>T | |
| NG_009090.2:g.170089G>T , LRG_401:g.170089G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.803G>T MANE Select | ENSP00000308452.8:p.Arg268Leu | |
| ENST00000311208.12:c.803G>T | ENSP00000308452.8:p.Arg268Leu | |
| ENST00000463128.5:c.188G>T | ENSP00000468672.1:p.Arg63Leu | |
| ENST00000493253.5:n.1190G>T | ||
| ENST00000540235.5:c.554G>T | ENSP00000441751.2:p.Arg185Leu | |
| NM_000422.2:c.803G>T | NP_000413.1:p.Arg268Leu | |
| NM_000422.3:c.803G>T MANE Select | NP_000413.1:p.Arg268Leu |