Linked Data
ClinVar Variation Id:
418550
ClinVar RCV Id:
RCV000484238
dbSNP Id:
rs1017182331
gnomAD v4:
2-97739386-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.97739386G>A , CM000664.2:g.97739386G>A | GRCh38 |
| NC_000002.11:g.98355849G>A , CM000664.1:g.98355849G>A | GRCh37 |
| NC_000002.10:g.97722281G>A | NCBI36 |
| NG_007727.1:g.30819G>A , LRG_126:g.30819G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698508.1:c.1748G>A | ENSP00000513759.1:p.Arg583His | |
| ENST00000698509.1:n.1888G>A | ||
| ENST00000264972.10:c.1748G>A MANE Select | ENSP00000264972.5:p.Arg583His | |
| ENST00000264972.9:c.1748G>A | ENSP00000264972.5:p.Arg583His | |
| ENST00000451498.2:c.827G>A | ENSP00000400475.2:p.Arg276His | |
| ENST00000463643.5:n.1609G>A | ||
| ENST00000487283.5:n.2800G>A | ||
| NM_001079.3:c.1748G>A , LRG_126t1:c.1748G>A | NP_001070.2:p.Arg583His | |
| NM_207519.1:c.827G>A | NP_997402.1:p.Arg276His | |
| XM_005264015.3:c.1730G>A | XP_005264072.1:p.Arg577His | |
| XM_011511783.1:c.1736+1279G>A | XP_011510085.1:n.1736+1279G>A | |
| XR_923018.1:n.1938+1279G>A | ||
| XR_923019.1:n.1938+1279G>A | ||
| XR_923020.1:n.2159G>A | ||
| XM_017004867.1:c.2117G>A | XP_016860356.1:p.Arg706His | |
| XM_017004868.1:c.2099G>A | XP_016860357.1:p.Arg700His | |
| XM_017004869.1:c.2105+1279G>A | XP_016860358.1:n.2105+1279G>A | |
| XR_001738925.1:n.3344+1279G>A | ||
| XR_001738926.1:n.3344+1279G>A | ||
| XR_001738927.1:n.3565G>A | ||
| NM_001079.4:c.1748G>A MANE Select | NP_001070.2:p.Arg583His | |
| NM_001378594.1:c.1748G>A | NP_001365523.1:p.Arg583His | |
| NM_207519.2:c.827G>A | NP_997402.1:p.Arg276His |