Linked Data
dbSNP Id:
rs1557790751
gnomAD v4:
1-97549599-A-G
MyVariant Identifiers:
chr1:g.98015155A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97549599A>G , CM000663.2:g.97549599A>G | GRCh38 |
| NC_000001.10:g.98015155A>G , CM000663.1:g.98015155A>G | GRCh37 |
| NC_000001.9:g.97787743A>G | NCBI36 |
| NG_008807.2:g.376461T>C , LRG_722:g.376461T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.1485T>C MANE Select | ENSP00000359211.3:p.Asp495= | |
| ENST00000370192.7:c.1485T>C | ENSP00000359211.3:p.Asp495= | |
| NM_000110.3:c.1485T>C , LRG_722t1:c.1485T>C | NP_000101.2:p.Asp495= | |
| XM_005270562.3:c.1485T>C | XP_005270619.2:p.Asp495= | |
| XM_006710397.2:c.1485T>C | XP_006710460.1:p.Asp495= | |
| XM_006710397.3:c.1485T>C | XP_006710460.1:p.Asp495= | |
| XM_017000507.1:c.1374T>C | XP_016855996.1:p.Asp458= | |
| XM_017000508.2:c.990T>C | XP_016855997.1:p.Asp330= | |
| XM_017000509.2:c.990T>C | XP_016855998.1:p.Asp330= | |
| XM_017000510.1:c.990T>C | XP_016855999.1:p.Asp330= | |
| NM_000110.4:c.1485T>C MANE Select | NP_000101.2:p.Asp495= |