Linked Data
dbSNP Id:
rs1645807629
gnomAD v3:
1-68429871-G-A
gnomAD v4:
1-68429871-G-A
MyVariant Identifiers:
chr1:g.68895554G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429871G>A , CM000663.2:g.68429871G>A | GRCh38 |
| NC_000001.10:g.68895554G>A , CM000663.1:g.68895554G>A | GRCh37 |
| NC_000001.9:g.68668142G>A | NCBI36 |
| NG_008472.1:g.25089C>T | |
| NG_008472.2:g.25089C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1507C>T MANE Select | ENSP00000262340.5:p.Leu503= | |
| ENST00000262340.5:c.1507C>T | ENSP00000262340.5:p.Leu503= | |
| NM_000329.2:c.1507C>T | NP_000320.1:p.Leu503= | |
| XM_017002027.1:c.1231C>T | XP_016857516.1:p.Leu411= | |
| NM_000329.3:c.1507C>T MANE Select | NP_000320.1:p.Leu503= |