Linked Data
ClinVar Variation Id:
1195931
ClinVar RCV Id:
RCV001559217
dbSNP Id:
rs779179608
gnomAD v4:
15-90811276-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90811276G>C , CM000677.2:g.90811276G>C | GRCh38 |
| NC_000015.9:g.91354506G>C , CM000677.1:g.91354506G>C | GRCh37 |
| NC_000015.8:g.89155510G>C | NCBI36 |
| NG_007272.1:g.98905G>C , LRG_20:g.98905G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.3946G>C MANE Select | ENSP00000347232.3:p.Asp1316His | |
| ENST00000560559.2:n.2519G>C | ||
| ENST00000648453.1:c.3946G>C | ENSP00000497646.1:p.Asp1316His | |
| ENST00000680772.1:c.3946G>C | ENSP00000506117.1:p.Asp1316His | |
| ENST00000681142.1:c.3946G>C | ENSP00000506682.1:p.Asp1316His | |
| ENST00000355112.7:c.3946G>C | ENSP00000347232.3:p.Asp1316His | |
| ENST00000558825.5:n.1293G>C | ||
| ENST00000559724.5:c.*2870G>C | ENSP00000453359.1:n.*2870G>C | |
| ENST00000560136.5:n.1972G>C | ||
| ENST00000560509.5:c.3553G>C | ENSP00000454158.1:p.Asp1185His | |
| ENST00000560821.1:n.366G>C | ||
| NM_000057.3:c.3946G>C | NP_000048.1:p.Asp1316His | |
| NM_001287246.1:c.3946G>C | NP_001274175.1:p.Asp1316His | |
| NM_001287247.1:c.3553G>C | NP_001274176.1:p.Asp1185His | |
| NM_001287248.1:c.2821G>C | NP_001274177.1:p.Asp941His | |
| XM_006720632.2:c.1984G>C | XP_006720695.1:p.Asp662His | |
| XM_011521881.1:c.2632G>C | XP_011520183.1:p.Asp878His | |
| XM_011521881.2:c.2632G>C | XP_011520183.1:p.Asp878His | |
| NM_000057.4:c.3946G>C MANE Select | NP_000048.1:p.Asp1316His | |
| NM_001287246.2:c.3946G>C | NP_001274175.1:p.Asp1316His | |
| NM_001287247.2:c.3553G>C | NP_001274176.1:p.Asp1185His | |
| NM_001287248.2:c.2821G>C | NP_001274177.1:p.Asp941His |