Linked Data
dbSNP Id:
rs1638551074
gnomAD v3:
1-1232683-G-A
gnomAD v4:
1-1232683-G-A
MyVariant Identifiers:
chr1:g.1168063G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232683G>A , CM000663.2:g.1232683G>A | GRCh38 |
| NC_000001.10:g.1168063G>A , CM000663.1:g.1168063G>A | GRCh37 |
| NC_000001.9:g.1157926G>A | NCBI36 |
| NG_030007.1:g.4385C>T | |
| NG_033265.1:g.5435G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.405G>A MANE Select | ENSP00000368496.2:p.Lys135= | |
| ENST00000379198.3:c.405G>A | ENSP00000368496.2:p.Lys135= | |
| NM_080605.3:c.405G>A | NP_542172.2:p.Lys135= | |
| NM_080605.4:c.405G>A MANE Select | NP_542172.2:p.Lys135= |