Linked Data
dbSNP Id:
rs754687696
ExAC:
3:45814004 G / A
gnomAD v2:
3-45814004-G-A
gnomAD v4:
3-45772512-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45772512G>A , CM000665.2:g.45772512G>A | GRCh38 |
| NC_000003.11:g.45814004G>A , CM000665.1:g.45814004G>A | GRCh37 |
| NC_000003.10:g.45789008G>A | NCBI36 |
| NG_023204.1:g.29032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703343.1:c.686C>T | ENSP00000515266.1:p.Thr229Ile | |
| ENST00000358525.9:c.686C>T MANE Select | ENSP00000346298.4:p.Thr229Ile | |
| ENST00000353278.8:c.583-1054C>T | ENSP00000296133.5:n.583-1054C>T | |
| ENST00000358525.8:c.686C>T | ENSP00000346298.4:p.Thr229Ile | |
| ENST00000413781.1:c.545C>T | ENSP00000395506.1:p.Thr182Ile | |
| ENST00000456124.6:c.686C>T | ENSP00000404310.2:p.Thr229Ile | |
| NM_020208.3:c.686C>T | NP_064593.1:p.Thr229Ile | |
| NM_022405.3:c.583-1054C>T | NP_071800.1:n.583-1054C>T | |
| XM_005265236.2:c.686C>T | XP_005265293.1:p.Thr229Ile | |
| XM_011533847.1:c.389C>T | XP_011532149.1:p.Thr130Ile | |
| XM_011533848.1:c.686C>T | XP_011532150.1:p.Thr229Ile | |
| XM_011533847.2:c.389C>T | XP_011532149.1:p.Thr130Ile | |
| XM_011533848.2:c.686C>T | XP_011532150.1:p.Thr229Ile | |
| NM_020208.4:c.686C>T MANE Select | NP_064593.1:p.Thr229Ile | |
| NM_022405.4:c.583-1054C>T | NP_071800.1:n.583-1054C>T | |
| NM_001385683.1:c.686C>T | NP_001372612.1:p.Thr229Ile |