Linked Data
ClinVar Variation Id:
1400320
ClinVar RCV Id:
RCV001896647
dbSNP Id:
rs774019293
gnomAD v2:
1-203677096-G-A
gnomAD v3:
1-203707968-G-A
gnomAD v4:
1-203707968-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203707968G>A , CM000663.2:g.203707968G>A | GRCh38 |
| NC_000001.10:g.203677096G>A , CM000663.1:g.203677096G>A | GRCh37 |
| NC_000001.9:g.201943719G>A | NCBI36 |
| NG_029589.1:g.86182G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341360.7:c.1421G>A | ENSP00000340930.2:p.Arg474His | |
| ENST00000705901.1:c.1385G>A | ENSP00000516177.1:p.Arg462His | |
| ENST00000357681.10:c.1421G>A MANE Select | ENSP00000350310.5:p.Arg474His | |
| ENST00000341360.6:c.1421G>A | ENSP00000340930.2:p.Arg474His | |
| ENST00000357681.9:c.1421G>A | ENSP00000350310.5:p.Arg474His | |
| ENST00000367218.7:c.1421G>A | ENSP00000356187.3:p.Arg474His | |
| NM_001001396.2:c.1421G>A | NP_001001396.1:p.Arg474His | |
| NM_001684.4:c.1421G>A | NP_001675.3:p.Arg474His | |
| NM_001365783.1:c.1421G>A | NP_001352712.1:p.Arg474His | |
| NM_001365784.1:c.1421G>A | NP_001352713.1:p.Arg474His | |
| NM_001365783.2:c.1421G>A | NP_001352712.1:p.Arg474His | |
| NM_001684.5:c.1421G>A MANE Select | NP_001675.3:p.Arg474His | |
| NM_001001396.3:c.1421G>A | NP_001001396.1:p.Arg474His | |
| NM_001365784.2:c.1421G>A | NP_001352713.1:p.Arg474His |