Linked Data
ClinVar Variation Id:
902540
dbSNP Id:
rs200143318
ExAC:
3:45814096 G / A
gnomAD v2:
3-45814096-G-A
gnomAD v3:
3-45772604-G-A
gnomAD v4:
3-45772604-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45772604G>A , CM000665.2:g.45772604G>A | GRCh38 |
| NC_000003.11:g.45814096G>A , CM000665.1:g.45814096G>A | GRCh37 |
| NC_000003.10:g.45789100G>A | NCBI36 |
| NG_023204.1:g.28940C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703343.1:c.594C>T | ENSP00000515266.1:p.Phe198= | |
| ENST00000358525.9:c.594C>T MANE Select | ENSP00000346298.4:p.Phe198= | |
| ENST00000353278.8:c.583-1146C>T | ENSP00000296133.5:n.583-1146C>T | |
| ENST00000358525.8:c.594C>T | ENSP00000346298.4:p.Phe198= | |
| ENST00000413781.1:c.453C>T | ENSP00000395506.1:p.Phe151= | |
| ENST00000456124.6:c.594C>T | ENSP00000404310.2:p.Phe198= | |
| NM_020208.3:c.594C>T | NP_064593.1:p.Phe198= | |
| NM_022405.3:c.583-1146C>T | NP_071800.1:n.583-1146C>T | |
| XM_005265236.2:c.594C>T | XP_005265293.1:p.Phe198= | |
| XM_011533847.1:c.297C>T | XP_011532149.1:p.Phe99= | |
| XM_011533848.1:c.594C>T | XP_011532150.1:p.Phe198= | |
| XM_011533847.2:c.297C>T | XP_011532149.1:p.Phe99= | |
| XM_011533848.2:c.594C>T | XP_011532150.1:p.Phe198= | |
| NM_020208.4:c.594C>T MANE Select | NP_064593.1:p.Phe198= | |
| NM_022405.4:c.583-1146C>T | NP_071800.1:n.583-1146C>T | |
| NM_001385683.1:c.594C>T | NP_001372612.1:p.Phe198= |