Linked Data
ClinVar Variation Id:
1305492
ClinVar RCV Id:
RCV001768699
dbSNP Id:
rs772383772
gnomAD v2:
14-31355288-G-A
gnomAD v3:
14-30886082-G-A
gnomAD v4:
14-30886082-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30886082G>A , CM000676.2:g.30886082G>A | GRCh38 |
| NC_000014.8:g.31355288G>A , CM000676.1:g.31355288G>A | GRCh37 |
| NC_000014.7:g.30425039G>A | NCBI36 |
| NG_008211.2:g.16548G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216361.9:c.1442G>A | ENSP00000216361.5:p.Arg481His | |
| ENST00000396618.9:c.1247G>A MANE Select | ENSP00000379862.3:p.Arg416His | |
| ENST00000555117.2:c.1304G>A | ENSP00000493569.1:p.Arg435His | |
| ENST00000643575.1:c.1247G>A | ENSP00000494838.1:p.Arg416His | |
| ENST00000643697.1:n.1549G>A | ||
| ENST00000644874.2:c.1247G>A | ENSP00000496360.1:p.Arg416His | |
| ENST00000216361.8:c.1247G>A | ENSP00000216361.4:p.Arg416His | |
| ENST00000396618.7:c.1247G>A | ENSP00000379862.3:p.Arg416His | |
| ENST00000460581.6:c.911G>A | ENSP00000451713.1:p.Arg304His | |
| ENST00000468826.2:c.898G>A | ||
| ENST00000475087.5:c.1247G>A | ENSP00000451528.1:p.Arg416His | |
| NM_001135058.1:c.1247G>A | NP_001128530.1:p.Arg416His | |
| NM_004086.2:c.1247G>A | NP_004077.1:p.Arg416His | |
| NR_038356.1:n.783C>T | ||
| XM_011536539.1:c.1247G>A | XP_011534841.1:p.Arg416His | |
| NM_001347720.1:c.1442G>A | NP_001334649.1:p.Arg481His | |
| XM_017021071.1:c.1442G>A | XP_016876560.1:p.Arg481His | |
| XM_024449506.1:c.1304G>A | XP_024305274.1:p.Arg435His | |
| NM_004086.3:c.1247G>A MANE Select | NP_004077.1:p.Arg416His | |
| NM_001135058.2:c.1247G>A | NP_001128530.1:p.Arg416His | |
| NM_001347720.2:c.1442G>A | NP_001334649.1:p.Arg481His |