Linked Data
ClinVar Variation Id:
12529
ClinVar RCV Id:
RCV001851823
dbSNP Id:
rs104894720
gnomAD v2:
19-41848134-C-T
gnomAD v4:
19-41342229-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41342229C>T , CM000681.2:g.41342229C>T | GRCh38 |
| NC_000019.9:g.41848134C>T , CM000681.1:g.41848134C>T | GRCh37 |
| NC_000019.8:g.46539974C>T | NCBI36 |
| NG_013364.1:g.16698G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000221930.6:c.653G>A MANE Select | ENSP00000221930.4:p.Arg218His | |
| ENST00000600196.2:c.653G>A | ENSP00000504008.1:p.Arg218His | |
| ENST00000677934.1:c.634+2518G>A | ENSP00000504769.1:n.634+2518G>A | |
| ENST00000221930.5:c.653G>A | ENSP00000221930.4:p.Arg218His | |
| ENST00000597453.1:n.184G>A | ||
| ENST00000600196.1:n.113G>A | ||
| NM_000660.5:c.653G>A | NP_000651.3:p.Arg218His | |
| XM_011527242.1:c.653G>A | XP_011525544.1:p.Arg218His | |
| NM_000660.6:c.653G>A | NP_000651.3:p.Arg218His | |
| XM_011527242.2:c.653G>A | XP_011525544.1:p.Arg218His | |
| NM_000660.7:c.653G>A MANE Select | NP_000651.3:p.Arg218His |