Linked Data
ClinVar Variation Id:
376143
dbSNP Id:
rs1057519789
PubMed:
PMID:22328973
CIViC:
CA16602600
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162775707A>T , CM000663.2:g.162775707A>T | GRCh38 |
| NC_000001.10:g.162745497A>T , CM000663.1:g.162745497A>T | GRCh37 |
| NC_000001.9:g.161012121A>T | NCBI36 |
| NG_016290.1:g.148270A>T | |
| NG_016290.2:g.149495A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367921.8:c.1912A>T MANE Select | ENSP00000356898.3:p.Ile638Phe | |
| ENST00000446985.6:c.1912A>T | ENSP00000400309.2:p.Ile638Phe | |
| ENST00000367921.7:c.1912A>T | ENSP00000356898.3:p.Ile638Phe | |
| ENST00000367922.7:c.1912A>T | ENSP00000356899.2:p.Ile638Phe | |
| NM_001014796.1:c.1912A>T | NP_001014796.1:p.Ile638Phe | |
| NM_006182.2:c.1912A>T | NP_006173.2:p.Ile638Phe | |
| XM_006711344.2:c.1912A>T | XP_006711407.1:p.Ile638Phe | |
| XM_011509586.1:c.1912A>T | XP_011507888.1:p.Ile638Phe | |
| XM_011509587.1:c.1912A>T | XP_011507889.1:p.Ile638Phe | |
| NM_001014796.2:c.1912A>T | NP_001014796.1:p.Ile638Phe | |
| NM_001354982.1:c.1912A>T | NP_001341911.1:p.Ile638Phe | |
| NM_001354983.1:c.1912A>T | NP_001341912.1:p.Ile638Phe | |
| NM_006182.3:c.1912A>T | NP_006173.2:p.Ile638Phe | |
| XM_011509587.2:c.1912A>T | XP_011507889.1:p.Ile638Phe | |
| NM_006182.4:c.1912A>T MANE Select | NP_006173.2:p.Ile638Phe | |
| NM_001014796.3:c.1912A>T | NP_001014796.1:p.Ile638Phe | |
| NM_001354982.2:c.1912A>T | NP_001341911.1:p.Ile638Phe | |
| NM_001354983.2:c.1912A>T | NP_001341912.1:p.Ile638Phe |