Linked Data
dbSNP Id:
rs755080522
ExAC:
1:68895582 T / C
gnomAD v2:
1-68895582-T-C
gnomAD v4:
1-68429899-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429899T>C , CM000663.2:g.68429899T>C | GRCh38 |
| NC_000001.10:g.68895582T>C , CM000663.1:g.68895582T>C | GRCh37 |
| NC_000001.9:g.68668170T>C | NCBI36 |
| NG_008472.1:g.25061A>G | |
| NG_008472.2:g.25061A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1479A>G MANE Select | ENSP00000262340.5:p.Pro493= | |
| ENST00000262340.5:c.1479A>G | ENSP00000262340.5:p.Pro493= | |
| NM_000329.2:c.1479A>G | NP_000320.1:p.Pro493= | |
| XM_017002027.1:c.1203A>G | XP_016857516.1:p.Pro401= | |
| NM_000329.3:c.1479A>G MANE Select | NP_000320.1:p.Pro493= |