Linked Data
ClinVar Variation Id:
1587370
ClinVar RCV Id:
RCV002103236
dbSNP Id:
rs370381369
ExAC:
6:138197170 C / T
gnomAD v2:
6-138197170-C-T
gnomAD v3:
6-137876033-C-T
gnomAD v4:
6-137876033-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137876033C>T , CM000668.2:g.137876033C>T | GRCh38 |
| NC_000006.11:g.138197170C>T , CM000668.1:g.138197170C>T | GRCh37 |
| NC_000006.10:g.138238863C>T | NCBI36 |
| NG_032761.1:g.13590C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420009.6:c.672C>T | ENSP00000401562.2:p.Phe224= | |
| ENST00000711061.1:c.*395C>T | ENSP00000518561.1:n.*395C>T | |
| ENST00000421450.2:c.672C>T | ENSP00000393577.2:p.Phe224= | |
| ENST00000433680.2:c.672C>T | ENSP00000409845.2:p.Phe224= | |
| ENST00000485192.2:n.1293C>T | ||
| ENST00000698329.1:n.1021C>T | ||
| ENST00000698330.1:n.296-2399C>T | ||
| ENST00000612899.5:c.672C>T MANE Select | ENSP00000481570.1:p.Phe224= | |
| ENST00000237289.8:c.672C>T | ENSP00000237289.4:p.Phe224= | |
| ENST00000485192.1:n.196C>T | ||
| ENST00000612899.4:c.672C>T | ENSP00000481570.1:p.Phe224= | |
| ENST00000614035.4:c.672C>T | ENSP00000481122.2:p.Phe224= | |
| ENST00000615468.4:c.*26C>T | ENSP00000479556.1:n.*26C>T | |
| ENST00000619035.4:c.672C>T | ENSP00000478438.1:p.Phe224= | |
| ENST00000620204.3:c.672C>T | ENSP00000481454.1:p.Phe224= | |
| ENST00000621150.3:c.672C>T | ENSP00000484332.2:p.Phe224= | |
| NM_001270507.1:c.672C>T | NP_001257436.1:p.Phe224= | |
| NM_001270508.1:c.672C>T | NP_001257437.1:p.Phe224= | |
| NM_006290.3:c.672C>T | NP_006281.1:p.Phe224= | |
| XM_005267119.1:c.672C>T | XP_005267176.1:p.Phe224= | |
| XM_006715555.1:c.33C>T | XP_006715618.1:p.Phe11= | |
| XM_011536095.1:c.672C>T | XP_011534397.1:p.Phe224= | |
| XM_011536096.1:c.672C>T | XP_011534398.1:p.Phe224= | |
| XM_011536096.2:c.672C>T | XP_011534398.1:p.Phe224= | |
| XM_024446532.1:c.672C>T | XP_024302300.1:p.Phe224= | |
| XM_024446533.1:c.672C>T | XP_024302301.1:p.Phe224= | |
| NM_001270508.2:c.672C>T MANE Select | NP_001257437.1:p.Phe224= | |
| NM_001270507.2:c.672C>T | NP_001257436.1:p.Phe224= | |
| NM_006290.4:c.672C>T | NP_006281.1:p.Phe224= |