Linked Data
ClinVar Variation Id:
2217002
ClinVar RCV Id:
RCV002691586
dbSNP Id:
rs144180775
ExAC:
17:39768534 C / T
gnomAD v2:
17-39768534-C-T
gnomAD v3:
17-41612282-C-T
gnomAD v4:
17-41612282-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612282C>T , CM000679.2:g.41612282C>T | GRCh38 |
| NC_000017.10:g.39768534C>T , CM000679.1:g.39768534C>T | GRCh37 |
| NC_000017.9:g.37022060C>T | NCBI36 |
| NG_008301.1:g.5546G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.407G>A MANE Select | ENSP00000301653.3:p.Arg136His | |
| ENST00000301653.8:c.407G>A | ENSP00000301653.3:p.Arg136His | |
| ENST00000588319.1:n.484G>A | ||
| ENST00000593067.1:c.-308G>A | ENSP00000467124.1:n.-308G>A | |
| NM_005557.3:c.407G>A | NP_005548.2:p.Arg136His | |
| NM_005557.4:c.407G>A MANE Select | NP_005548.2:p.Arg136His |