Linked Data
dbSNP Id:
rs774368515
ExAC:
4:73179433 G / A
gnomAD v2:
4-73179433-G-A
gnomAD v3:
4-72313716-G-A
gnomAD v4:
4-72313716-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.72313716G>A , CM000666.2:g.72313716G>A | GRCh38 |
| NC_000004.11:g.73179433G>A , CM000666.1:g.73179433G>A | GRCh37 |
| NC_000004.10:g.73398297G>A | NCBI36 |
| NG_046955.1:g.260084C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286657.10:c.1706C>T MANE Select | ENSP00000286657.4:p.Thr569Ile | |
| ENST00000286657.8:c.1706C>T | ENSP00000286657.4:p.Thr569Ile | |
| ENST00000622135.1:c.1706C>T | ENSP00000480055.1:p.Thr569Ile | |
| NM_014243.2:c.1706C>T | NP_055058.2:p.Thr569Ile | |
| XM_011532421.1:c.1649C>T | XP_011530723.1:p.Thr550Ile | |
| XM_011532422.1:c.1622C>T | XP_011530724.1:p.Thr541Ile | |
| XM_011532423.1:c.1064C>T | XP_011530725.1:p.Thr355Ile | |
| XM_011532424.1:c.974C>T | XP_011530726.1:p.Thr325Ile | |
| XM_011532421.2:c.1649C>T | XP_011530723.1:p.Thr550Ile | |
| XM_011532422.3:c.1622C>T | XP_011530724.1:p.Thr541Ile | |
| NM_014243.3:c.1706C>T MANE Select | NP_055058.2:p.Thr569Ile |