Linked Data
ClinVar Variation Id:
534933
ClinVar RCV Id:
RCV000642637
dbSNP Id:
rs769046350
ExAC:
11:68700805 G / A
gnomAD v2:
11-68700805-G-A
gnomAD v3:
11-68933337-G-A
gnomAD v4:
11-68933337-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933337G>A , CM000673.2:g.68933337G>A | GRCh38 |
| NC_000011.9:g.68700805G>A , CM000673.1:g.68700805G>A | GRCh37 |
| NC_000011.8:g.68457381G>A | NCBI36 |
| NG_007976.1:g.34487G>A , LRG_250:g.34487G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255078.8:c.1274G>A MANE Select | ENSP00000255078.4:p.Arg425His | |
| ENST00000536803.2:n.185G>A | ||
| ENST00000674955.1:c.1386G>A | ENSP00000502463.1:p.Thr462= | |
| ENST00000675118.1:c.762G>A | ||
| ENST00000675205.1:n.39G>A | ||
| ENST00000675310.1:n.411G>A | ||
| ENST00000675615.1:c.1274G>A | ENSP00000502413.1:p.Arg425His | |
| ENST00000675648.1:n.649G>A | ||
| ENST00000675997.1:n.113-1127G>A | ||
| ENST00000676149.1:n.348G>A | ||
| ENST00000676173.1:n.2019G>A | ||
| ENST00000676228.1:c.*597G>A | ENSP00000502375.1:n.*597G>A | |
| ENST00000255078.7:c.1274G>A | ENSP00000255078.3:p.Arg425His | |
| ENST00000536803.1:n.383G>A | ||
| ENST00000537458.5:n.391G>A | ||
| ENST00000539064.5:n.1033G>A | ||
| ENST00000543739.5:n.391G>A | ||
| ENST00000568742.1:n.496G>A | ||
| NM_002180.2:c.1274G>A , LRG_250t1:c.1274G>A | NP_002171.2:p.Arg425His | |
| XM_005273974.2:c.263G>A | XP_005274031.1:p.Arg88His | |
| XM_005273975.2:c.146G>A | XP_005274032.1:p.Arg49His | |
| XM_011544994.1:c.41G>A | XP_011543296.1:p.Arg14His | |
| XR_247198.1:n.2077G>A | ||
| XR_949903.1:n.1376G>A | ||
| XM_005273975.3:c.146G>A | XP_005274032.1:p.Arg49His | |
| XM_017017669.2:c.263G>A | XP_016873158.1:p.Arg88His | |
| XM_017017670.2:c.263G>A | XP_016873159.1:p.Arg88His | |
| XM_017017671.2:c.1274G>A | XP_016873160.1:p.Arg425His | |
| XR_949903.3:n.1372G>A | ||
| NM_002180.3:c.1274G>A MANE Select | NP_002171.2:p.Arg425His |