Linked Data
ClinVar Variation Id:
1061631
ClinVar RCV Id:
RCV001371248
dbSNP Id:
rs369530487
ExAC:
14:21769259 G / A
gnomAD v2:
14-21769259-G-A
gnomAD v3:
14-21301100-G-A
gnomAD v4:
14-21301100-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21301100G>A , CM000676.2:g.21301100G>A | GRCh38 |
| NC_000014.8:g.21769259G>A , CM000676.1:g.21769259G>A | GRCh37 |
| NC_000014.7:g.20839099G>A | NCBI36 |
| NG_008933.1:g.18124G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.353G>A MANE Select | ENSP00000382895.2:p.Arg118His | |
| ENST00000400017.6:c.353G>A | ENSP00000382895.2:p.Arg118His | |
| ENST00000556336.5:c.353G>A | ENSP00000450445.1:p.Arg118His | |
| ENST00000557771.5:c.353G>A | ENSP00000451219.1:p.Arg118His | |
| NM_020366.3:c.353G>A | NP_065099.3:p.Arg118His | |
| XM_011536983.1:c.353G>A | XP_011535285.1:p.Arg118His | |
| NM_020366.4:c.353G>A MANE Select | NP_065099.3:p.Arg118His |