Linked Data
ClinVar Variation Id:
17573
ClinVar RCV Id:
RCV000019134
dbSNP Id:
rs121912789
gnomAD v2:
11-1778573-A-T
gnomAD v3:
11-1757343-A-T
gnomAD v4:
11-1757343-A-T
PubMed:
PMID:16685649
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1757343A>T , CM000673.2:g.1757343A>T | GRCh38 |
| NC_000011.9:g.1778573A>T , CM000673.1:g.1778573A>T | GRCh37 |
| NC_000011.8:g.1735149A>T | NCBI36 |
| NG_008655.1:g.11650T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.685T>A MANE Select | ENSP00000236671.2:p.Phe229Ile | |
| ENST00000367196.4:c.580T>A | ENSP00000356164.4:p.Phe194Ile | |
| ENST00000427721.3:c.110T>A | ||
| ENST00000429746.2:c.580T>A | ENSP00000402586.2:p.Phe194Ile | |
| ENST00000433655.6:c.685T>A | ENSP00000404902.1:p.Phe229Ile | |
| ENST00000438213.6:c.685T>A | ENSP00000415036.2:p.Phe229Ile | |
| ENST00000636397.1:c.685T>A | ENSP00000489910.1:p.Phe229Ile | |
| ENST00000636571.1:c.664T>A | ENSP00000490770.1:p.Phe222Ile | |
| ENST00000636615.1:c.685T>A | ENSP00000490014.1:p.Phe229Ile | |
| ENST00000636843.1:c.679T>A | ENSP00000490897.1:p.Phe227Ile | |
| ENST00000637158.1:n.283T>A | ||
| ENST00000637381.2:n.3113T>A | ||
| ENST00000637387.1:c.685T>A | ENSP00000490598.1:p.Phe229Ile | |
| ENST00000637815.2:c.685T>A | ENSP00000490344.1:p.Phe229Ile | |
| ENST00000637915.1:c.685T>A | ENSP00000490471.1:p.Phe229Ile | |
| ENST00000677300.1:n.1080T>A | ||
| ENST00000678991.1:c.*546T>A | ENSP00000503019.1:n.*546T>A | |
| ENST00000236671.6:c.685T>A | ENSP00000236671.2:p.Phe229Ile | |
| ENST00000367196.3:c.580T>A | ENSP00000356164.3:p.Phe194Ile | |
| ENST00000427721.2:c.85T>A | ENSP00000415840.2:p.Phe29Ile | |
| ENST00000433655.5:c.685T>A | ENSP00000404902.1:p.Phe229Ile | |
| ENST00000438213.5:c.640T>A | ENSP00000415036.1:p.Phe214Ile | |
| NM_001909.4:c.685T>A | NP_001900.1:p.Phe229Ile | |
| NM_001909.5:c.685T>A MANE Select | NP_001900.1:p.Phe229Ile |