Linked Data
ClinVar Variation Id:
285623
dbSNP Id:
rs201405662
ExAC:
3:121547366 G / A
gnomAD v2:
3-121547366-G-A
gnomAD v3:
3-121828519-G-A
gnomAD v4:
3-121828519-G-A
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121828519G>A , CM000665.2:g.121828519G>A | GRCh38 |
| NC_000003.11:g.121547366G>A , CM000665.1:g.121547366G>A | GRCh37 |
| NC_000003.10:g.123030056G>A | NCBI36 |
| NG_015887.1:g.11561C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310864.11:c.214C>T MANE Select | ENSP00000311505.6:p.Arg72Ter | |
| ENST00000310864.10:c.214C>T | ENSP00000311505.6:p.Arg72Ter | |
| ENST00000349820.10:c.214C>T | ENSP00000323756.7:p.Arg72Ter | |
| ENST00000393650.7:c.214C>T | ENSP00000377261.3:p.Arg72Ter | |
| ENST00000460108.5:c.-290+342C>T | ENSP00000419168.1:n.-290+342C>T | |
| ENST00000462442.1:c.214C>T | ENSP00000419376.1:p.Arg72Ter | |
| ENST00000498104.1:c.-196+342C>T | ENSP00000417832.1:n.-196+342C>T | |
| NM_001023570.2:c.214C>T | NP_001018864.2:p.Arg72Ter | |
| NM_001023571.2:c.214C>T | NP_001018865.2:p.Arg72Ter | |
| XM_005247911.2:c.214C>T | XP_005247968.1:p.Arg72Ter | |
| XM_005247912.1:c.-290+342C>T | XP_005247969.1:n.-290+342C>T | |
| XM_005247913.1:c.214C>T | XP_005247970.1:p.Arg72Ter | |
| XM_011513335.1:c.-196+342C>T | XP_011511637.1:n.-196+342C>T | |
| XR_924221.1:n.341C>T | ||
| NM_001023570.3:c.214C>T | NP_001018864.2:p.Arg72Ter | |
| NM_001023571.3:c.214C>T | NP_001018865.2:p.Arg72Ter | |
| NM_001319107.1:c.214C>T | NP_001306036.1:p.Arg72Ter | |
| NR_134968.1:n.428C>T | ||
| XM_005247911.4:c.214C>T | XP_005247968.1:p.Arg72Ter | |
| XM_005247912.3:c.-290+342C>T | XP_005247969.1:n.-290+342C>T | |
| XM_011513335.3:c.-196+342C>T | XP_011511637.1:n.-196+342C>T | |
| XM_017007537.2:c.-245C>T | XP_016863026.1:n.-245C>T | |
| XM_017007539.2:c.214C>T | XP_016863028.1:p.Arg72Ter | |
| XM_024453833.1:c.-693C>T | XP_024309601.1:n.-693C>T | |
| XM_024453834.1:c.-644+342C>T | XP_024309602.1:n.-644+342C>T | |
| XR_001740376.2:n.342C>T | ||
| XR_001740377.2:n.342C>T | ||
| XR_001740378.2:n.342C>T | ||
| XR_001740379.2:n.342C>T | ||
| XR_001740380.2:n.342C>T | ||
| XR_001740381.2:n.342C>T | ||
| NM_001023570.4:c.214C>T MANE Select | NP_001018864.2:p.Arg72Ter | |
| NM_001023571.4:c.214C>T | NP_001018865.2:p.Arg72Ter | |
| NM_001319107.2:c.214C>T | NP_001306036.1:p.Arg72Ter | |
| NR_134968.2:n.409C>T |