Linked Data
ClinVar Variation Id:
2719417
ClinVar RCV Id:
RCV003506153
dbSNP Id:
rs1394756502
gnomAD v2:
22-32871019-G-A
gnomAD v3:
22-32475032-G-A
gnomAD v4:
22-32475032-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32475032G>A , CM000684.2:g.32475032G>A | GRCh38 |
| NC_000022.10:g.32871019G>A , CM000684.1:g.32871019G>A | GRCh37 |
| NC_000022.9:g.31201019G>A | NCBI36 |
| NG_016001.1:g.5313G>A | |
| NG_016001.2:g.5313G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.30G>A MANE Select | ENSP00000266087.7:p.Arg10= | |
| ENST00000266087.11:c.30G>A | ENSP00000266087.7:p.Arg10= | |
| ENST00000420700.5:c.30G>A | ENSP00000406155.1:p.Arg10= | |
| ENST00000425028.5:c.30G>A | ENSP00000395823.1:p.Arg10= | |
| ENST00000492535.1:n.18G>A | ||
| NM_012179.3:c.30G>A | NP_036311.3:p.Arg10= | |
| XM_011530106.1:c.-144G>A | XP_011528408.1:n.-144G>A | |
| XM_024452207.1:c.-161G>A | XP_024307975.1:n.-161G>A | |
| NM_012179.4:c.30G>A MANE Select | NP_036311.3:p.Arg10= |