Linked Data
ClinVar Variation Id:
594373
ClinVar RCV Id:
RCV000729644
dbSNP Id:
rs149359610
ExAC:
10:101590172 G / A
gnomAD v2:
10-101590172-G-A
gnomAD v3:
10-99830415-G-A
gnomAD v4:
10-99830415-G-A
COSMIC:
COSM4010959
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99830415G>A , CM000672.2:g.99830415G>A | GRCh38 |
| NC_000010.10:g.101590172G>A , CM000672.1:g.101590172G>A | GRCh37 |
| NC_000010.9:g.101580162G>A | NCBI36 |
| NG_011798.1:g.52710G>A | |
| NG_011798.2:g.52818G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.2729G>A MANE Select | ENSP00000497274.1:p.Arg910His | |
| ENST00000370449.8:c.2729G>A | ENSP00000359478.4:p.Arg910His | |
| NM_000392.4:c.2729G>A | NP_000383.1:p.Arg910His | |
| XM_006717630.2:c.2033G>A | XP_006717693.1:p.Arg678His | |
| XM_011539291.1:c.2729G>A | XP_011537593.1:p.Arg910His | |
| XR_945604.1:n.2918G>A | ||
| XR_945605.1:n.2920G>A | ||
| NM_000392.5:c.2729G>A MANE Select | NP_000383.2:p.Arg910His | |
| XM_006717630.3:c.2033G>A | XP_006717693.1:p.Arg678His | |
| XM_011539291.3:c.2729G>A | XP_011537593.1:p.Arg910His | |
| XR_945604.3:n.2972G>A | ||
| XR_945605.3:n.2972G>A |