Linked Data
ClinVar Variation Id:
2456531
ClinVar RCV Id:
RCV003173503
dbSNP Id:
rs765533099
ExAC:
17:39768924 C / A
gnomAD v2:
17-39768924-C-A
gnomAD v3:
17-41612672-C-A
gnomAD v4:
17-41612672-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612672C>A , CM000679.2:g.41612672C>A | GRCh38 |
| NC_000017.10:g.39768924C>A , CM000679.1:g.39768924C>A | GRCh37 |
| NC_000017.9:g.37022450C>A | NCBI36 |
| NG_008301.1:g.5156G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.17G>T MANE Select | ENSP00000301653.3:p.Arg6Leu | |
| ENST00000301653.8:c.17G>T | ENSP00000301653.3:p.Arg6Leu | |
| ENST00000588319.1:n.94G>T | ||
| ENST00000590990.1:c.17G>T | ENSP00000467105.1:p.Arg6Leu | |
| ENST00000593067.1:c.-313+118G>T | ENSP00000467124.1:n.-313+118G>T | |
| NM_005557.3:c.17G>T | NP_005548.2:p.Arg6Leu | |
| NM_005557.4:c.17G>T MANE Select | NP_005548.2:p.Arg6Leu |