Linked Data
dbSNP Id:
rs1444860485
gnomAD v2:
1-68895495-G-T
gnomAD v3:
1-68429812-G-T
gnomAD v4:
1-68429812-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429812G>T , CM000663.2:g.68429812G>T | GRCh38 |
| NC_000001.10:g.68895495G>T , CM000663.1:g.68895495G>T | GRCh37 |
| NC_000001.9:g.68668083G>T | NCBI36 |
| NG_008472.1:g.25148C>A | |
| NG_008472.2:g.25148C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1566C>A MANE Select | ENSP00000262340.5:p.Ile522= | |
| ENST00000262340.5:c.1566C>A | ENSP00000262340.5:p.Ile522= | |
| NM_000329.2:c.1566C>A | NP_000320.1:p.Ile522= | |
| XM_017002027.1:c.1290C>A | XP_016857516.1:p.Ile430= | |
| NM_000329.3:c.1566C>A MANE Select | NP_000320.1:p.Ile522= |