Linked Data
ClinVar Variation Id:
271
dbSNP Id:
rs267607004
gnomAD v3:
10-110812304-G-A
gnomAD v4:
10-110812304-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812304G>A , CM000672.2:g.110812304G>A | GRCh38 |
| NC_000010.10:g.112572062G>A , CM000672.1:g.112572062G>A | GRCh37 |
| NC_000010.9:g.112562052G>A | NCBI36 |
| NG_021177.1:g.172908G>A , LRG_382:g.172908G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369519.4:c.1907G>A MANE Select | ENSP00000358532.3:p.Arg636His | |
| ENST00000369519.3:c.1907G>A | ENSP00000358532.3:p.Arg636His | |
| NM_001134363.2:c.1907G>A | NP_001127835.2:p.Arg636His | |
| XM_011539697.1:c.1523G>A | XP_011537999.1:p.Arg508His | |
| XM_017016103.2:c.1742G>A | XP_016871592.1:p.Arg581His | |
| XM_017016104.2:c.1523G>A | XP_016871593.1:p.Arg508His | |
| NM_001134363.3:c.1907G>A MANE Select | NP_001127835.2:p.Arg636His |