Linked Data
dbSNP Id:
rs1648178826
gnomAD v3:
1-97515786-A-G
gnomAD v4:
1-97515786-A-G
MyVariant Identifiers:
chr1:g.97981342A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97515786A>G , CM000663.2:g.97515786A>G | GRCh38 |
| NC_000001.10:g.97981342A>G , CM000663.1:g.97981342A>G | GRCh37 |
| NC_000001.9:g.97753930A>G | NCBI36 |
| NG_008807.2:g.410274T>C , LRG_722:g.410274T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.1680T>C MANE Select | ENSP00000359211.3:p.Ile560= | |
| ENST00000370192.7:c.1680T>C | ENSP00000359211.3:p.Ile560= | |
| NM_000110.3:c.1680T>C , LRG_722t1:c.1680T>C | NP_000101.2:p.Ile560= | |
| XM_005270562.3:c.1524+33774T>C | XP_005270619.2:n.1524+33774T>C | |
| XM_006710397.2:c.1680T>C | XP_006710460.1:p.Ile560= | |
| XM_006710397.3:c.1680T>C | XP_006710460.1:p.Ile560= | |
| XM_017000507.1:c.1569T>C | XP_016855996.1:p.Ile523= | |
| XM_017000508.2:c.1185T>C | XP_016855997.1:p.Ile395= | |
| XM_017000509.2:c.1185T>C | XP_016855998.1:p.Ile395= | |
| XM_017000510.1:c.1185T>C | XP_016855999.1:p.Ile395= | |
| NM_000110.4:c.1680T>C MANE Select | NP_000101.2:p.Ile560= |