Linked Data
ClinVar Variation Id:
369685
ClinVar RCV Id:
RCV003231469
dbSNP Id:
rs1057516048
PubMed:
PMID:26938784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177283796A>T , CM000667.2:g.177283796A>T | GRCh38 |
| NC_000005.9:g.176710797A>T , CM000667.1:g.176710797A>T | GRCh37 |
| NC_000005.8:g.176643403A>T | NCBI36 |
| NG_009821.1:g.155718A>T , LRG_512:g.155718A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508896.7:c.5146A>T | ENSP00000423372.3:p.Ile1716Phe | |
| ENST00000347982.9:c.5146A>T | ENSP00000343209.5:p.Ile1716Phe | |
| ENST00000354179.9:c.5146A>T | ENSP00000346111.5:p.Ile1716Phe | |
| ENST00000503056.6:c.661A>T | ENSP00000424024.2:p.Ile221Phe | |
| ENST00000508029.6:c.661A>T | ENSP00000425120.2:p.Ile221Phe | |
| ENST00000685206.1:n.5602A>T | ||
| ENST00000686993.1:c.5146A>T | ENSP00000510020.1:p.Ile1716Phe | |
| ENST00000687453.1:c.5710A>T | ENSP00000508426.1:p.Ile1904Phe | |
| ENST00000688613.1:n.5416A>T | ||
| ENST00000689345.1:c.5146A>T | ENSP00000509711.1:p.Ile1716Phe | |
| ENST00000689549.1:n.6166A>T | ||
| ENST00000692024.1:n.4568A>T | ||
| ENST00000439151.7:c.6019A>T MANE Select | ENSP00000395929.2:p.Ile2007Phe | |
| ENST00000347982.8:c.5212A>T | ENSP00000343209.4:p.Ile1738Phe | |
| ENST00000354179.8:c.5212A>T | ENSP00000346111.4:p.Ile1738Phe | |
| ENST00000439151.6:c.6019A>T | ENSP00000395929.2:p.Ile2007Phe | |
| NM_022455.4:c.6019A>T , LRG_512t1:c.6019A>T | NP_071900.2:p.Ile2007Phe | |
| NM_172349.2:c.5212A>T | NP_758859.1:p.Ile1738Phe | |
| XM_005265959.1:c.6019A>T | XP_005266016.1:p.Ile2007Phe | |
| XM_005265960.1:c.5212A>T | XP_005266017.1:p.Ile1738Phe | |
| XM_005265961.1:c.5212A>T | XP_005266018.1:p.Ile1738Phe | |
| XM_005265962.3:c.1513A>T | XP_005266019.1:p.Ile505Phe | |
| XM_011534610.1:c.6019A>T | XP_011532912.1:p.Ile2007Phe | |
| XM_011534611.1:c.6019A>T | XP_011532913.1:p.Ile2007Phe | |
| XM_011534612.1:c.5599A>T | XP_011532914.1:p.Ile1867Phe | |
| XM_011534613.1:c.4963A>T | XP_011532915.1:p.Ile1655Phe | |
| XM_011534617.1:c.1753A>T | XP_011532919.1:p.Ile585Phe | |
| NM_001365684.1:c.5212A>T | NP_001352613.1:p.Ile1738Phe | |
| XM_024446150.1:c.6019A>T | XP_024301918.1:p.Ile2007Phe | |
| XM_024446151.1:c.6019A>T | XP_024301919.1:p.Ile2007Phe | |
| XM_024446152.1:c.6019A>T | XP_024301920.1:p.Ile2007Phe | |
| XM_024446153.1:c.6019A>T | XP_024301921.1:p.Ile2007Phe | |
| XM_024446154.1:c.5599A>T | XP_024301922.1:p.Ile1867Phe | |
| XM_024446155.1:c.5212A>T | XP_024301923.1:p.Ile1738Phe | |
| XM_024446156.1:c.5212A>T | XP_024301924.1:p.Ile1738Phe | |
| XM_024446158.1:c.5212A>T | XP_024301926.1:p.Ile1738Phe | |
| XM_024446159.1:c.4963A>T | XP_024301927.1:p.Ile1655Phe | |
| XM_024446162.1:c.1753A>T | XP_024301930.1:p.Ile585Phe | |
| XM_024446163.1:c.1513A>T | XP_024301931.1:p.Ile505Phe | |
| NM_022455.5:c.6019A>T MANE Select | NP_071900.2:p.Ile2007Phe | |
| NM_172349.3:c.5212A>T | NP_758859.1:p.Ile1738Phe |