Linked Data
ClinVar Variation Id:
96704
ClinVar RCV Id:
RCV000082866
dbSNP Id:
rs587777076
PubMed:
PMID:23487782
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10784872T>A , CM000680.2:g.10784872T>A | GRCh38 |
| NC_000018.9:g.10784870T>A , CM000680.1:g.10784870T>A | GRCh37 |
| NC_000018.8:g.10774870T>A | NCBI36 |
| NG_034005.1:g.368891A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000383408.7:c.2404A>T | ENSP00000372900.4:p.Ile802Phe | |
| ENST00000686869.1:n.2461A>T | ||
| ENST00000674853.1:c.2404A>T MANE Select | ENSP00000501957.1:p.Ile802Phe | |
| ENST00000302079.10:c.2404A>T | ENSP00000303316.6:p.Ile802Phe | |
| ENST00000383408.6:c.2251A>T | ENSP00000372900.3:p.Ile751Phe | |
| ENST00000503781.7:c.2404A>T | ENSP00000421377.3:p.Ile802Phe | |
| ENST00000580640.5:c.2404A>T | ENSP00000463094.1:p.Ile802Phe | |
| ENST00000582913.5:c.2404A>T | ENSP00000462115.1:p.Ile802Phe | |
| ENST00000583325.1:c.391A>T | ENSP00000462560.1:p.Ile131Phe | |
| NM_022068.3:c.2404A>T | NP_071351.2:p.Ile802Phe | |
| XM_011525723.1:c.2404A>T | XP_011524025.1:p.Ile802Phe | |
| XM_011525724.1:c.2404A>T | XP_011524026.1:p.Ile802Phe | |
| XM_011525725.1:c.2404A>T | XP_011524027.1:p.Ile802Phe | |
| XM_011525726.1:c.2404A>T | XP_011524028.1:p.Ile802Phe | |
| XM_011525727.1:c.2404A>T | XP_011524029.1:p.Ile802Phe | |
| XM_011525723.3:c.2404A>T | XP_011524025.1:p.Ile802Phe | |
| XM_011525724.3:c.2404A>T | XP_011524026.1:p.Ile802Phe | |
| XM_011525725.3:c.2404A>T | XP_011524027.1:p.Ile802Phe | |
| XM_011525726.3:c.2404A>T | XP_011524028.1:p.Ile802Phe | |
| XM_017025918.2:c.2365A>T | XP_016881407.1:p.Ile789Phe | |
| XR_001753259.2:n.3401A>T | ||
| NM_001378183.1:c.2404A>T MANE Select | NP_001365112.1:p.Ile802Phe | |
| NM_022068.4:c.2404A>T | NP_071351.2:p.Ile802Phe |