Linked Data
dbSNP Id:
rs746143334
ExAC:
1:67519529 G / T
gnomAD v2:
1-67519529-G-T
gnomAD v3:
1-67053846-G-T
gnomAD v4:
1-67053846-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67053846G>T , CM000663.2:g.67053846G>T | GRCh38 |
| NC_000001.10:g.67519529G>T , CM000663.1:g.67519529G>T | GRCh37 |
| NC_000001.9:g.67292117G>T | NCBI36 |
| NG_012933.1:g.5552C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235345.6:c.168C>A MANE Select | ENSP00000235345.5:p.Ile56= | |
| ENST00000235345.5:c.168C>A | ENSP00000235345.5:p.Ile56= | |
| NM_015139.2:c.168C>A | NP_055954.1:p.Ile56= | |
| XM_006710478.1:c.168C>A | XP_006710541.1:p.Ile56= | |
| XM_011541070.1:c.168C>A | XP_011539372.1:p.Ile56= | |
| XM_006710478.2:c.168C>A | XP_006710541.1:p.Ile56= | |
| XM_011541070.2:c.168C>A | XP_011539372.1:p.Ile56= | |
| XR_001737057.2:n.578C>A | ||
| XR_001737058.2:n.571C>A | ||
| NM_015139.3:c.168C>A MANE Select | NP_055954.1:p.Ile56= |