Linked Data
ClinVar Variation Id:
1603287
ClinVar RCV Id:
RCV002141924
dbSNP Id:
rs1172535420
gnomAD v2:
11-45827724-C-T
gnomAD v4:
11-45806173-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45806173C>T , CM000673.2:g.45806173C>T | GRCh38 |
| NC_000011.9:g.45827724C>T , CM000673.1:g.45827724C>T | GRCh37 |
| NC_000011.8:g.45784300C>T | NCBI36 |
| NG_009875.1:g.7102C>T , LRG_107:g.7102C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526817.2:c.333C>T | ENSP00000432145.2:p.Phe111= | |
| ENST00000314134.4:c.372C>T MANE Select | ENSP00000313318.3:p.Phe124= | |
| ENST00000314134.3:c.372C>T | ENSP00000313318.3:p.Phe124= | |
| ENST00000442528.2:c.333C>T | ENSP00000412408.2:p.Phe111= | |
| ENST00000530471.1:c.333C>T | ENSP00000432669.1:p.Phe111= | |
| NM_001145265.1:c.333C>T | NP_001138737.1:p.Phe111= | |
| NM_001145266.1:c.333C>T | NP_001138738.1:p.Phe111= | |
| NM_018389.4:c.372C>T , LRG_107t1:c.372C>T | NP_060859.4:p.Phe124= | |
| XM_011520203.1:c.372C>T | XP_011518505.1:p.Phe124= | |
| XM_011520203.3:c.372C>T | XP_011518505.1:p.Phe124= | |
| NM_001145265.2:c.333C>T | NP_001138737.1:p.Phe111= | |
| NM_018389.5:c.372C>T MANE Select | NP_060859.4:p.Phe124= |