Linked Data
ClinVar Variation Id:
376722
ClinVar RCV Id:
RCV000417837
dbSNP Id:
rs1057519726
PubMed:
PMID:16371029
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28018502T>A , CM000675.2:g.28018502T>A | GRCh38 |
| NC_000013.10:g.28592639T>A , CM000675.1:g.28592639T>A | GRCh37 |
| NC_000013.9:g.27490639T>A | NCBI36 |
| NG_007066.1:g.87067A>T , LRG_457:g.87067A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241453.12:c.2506A>T MANE Select | ENSP00000241453.7:p.Ile836Phe | |
| ENST00000241453.11:c.2506A>T | ENSP00000241453.7:p.Ile836Phe | |
| ENST00000380987.2:c.*418A>T | ENSP00000370374.2:n.*418A>T | |
| NM_004119.2:c.2506A>T , LRG_457t1:c.2506A>T | NP_004110.2:p.Ile836Phe | |
| NR_130706.1:n.2720A>T | ||
| XM_011535015.1:c.2449A>T | XP_011533317.1:p.Ile817Phe | |
| XM_011535016.1:c.1981A>T | XP_011533318.1:p.Ile661Phe | |
| XM_011535017.1:c.1981A>T | XP_011533319.1:p.Ile661Phe | |
| XM_011535018.1:c.1981A>T | XP_011533320.1:p.Ile661Phe | |
| XM_011535015.2:c.2449A>T | XP_011533317.1:p.Ile817Phe | |
| XM_011535017.2:c.1981A>T | XP_011533319.1:p.Ile661Phe | |
| XM_011535018.2:c.1981A>T | XP_011533320.1:p.Ile661Phe | |
| XM_017020486.1:c.2290A>T | XP_016875975.1:p.Ile764Phe | |
| XM_017020487.1:c.1981A>T | XP_016875976.1:p.Ile661Phe | |
| XM_017020488.1:c.1627A>T | XP_016875977.1:p.Ile543Phe | |
| XM_017020489.1:c.1609A>T | XP_016875978.1:p.Ile537Phe | |
| NM_004119.3:c.2506A>T MANE Select | NP_004110.2:p.Ile836Phe | |
| NR_130706.2:n.2704A>T |