Linked Data
ClinVar Variation Id:
39480
ClinVar RCV Id:
RCV000032676
dbSNP Id:
rs397514512
PubMed:
PMID:23273569
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72233696T>A , CM000673.2:g.72233696T>A | GRCh38 |
| NC_000011.9:g.71944740T>A , CM000673.1:g.71944740T>A | GRCh37 |
| NC_000011.8:g.71622388T>A | NCBI36 |
| NG_023253.1:g.13859T>A | |
| NG_023253.2:g.13859T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298229.7:c.2164T>A MANE Select | ENSP00000298229.2:p.Phe722Ile | |
| ENST00000298229.6:c.2164T>A | ENSP00000298229.2:p.Phe722Ile | |
| ENST00000535985.1:c.17T>A | ||
| ENST00000538751.5:c.1438T>A | ENSP00000444619.1:p.Phe480Ile | |
| ENST00000541303.5:n.770T>A | ||
| ENST00000541756.5:c.1966T>A | ENSP00000446360.2:p.Phe656Ile | |
| ENST00000545355.5:n.449T>A | ||
| NM_001567.3:c.2164T>A | NP_001558.3:p.Phe722Ile | |
| XM_005273978.3:c.2230T>A | XP_005274035.1:p.Phe744Ile | |
| XM_005273979.3:c.2230T>A | XP_005274036.1:p.Phe744Ile | |
| XM_011544999.1:c.2164T>A | XP_011543301.1:p.Phe722Ile | |
| XM_011545000.1:c.2230T>A | XP_011543302.1:p.Phe744Ile | |
| XM_005273979.4:c.2230T>A | XP_005274036.1:p.Phe744Ile | |
| XM_011544999.2:c.2164T>A | XP_011543301.1:p.Phe722Ile | |
| XM_024448501.1:c.2362T>A | XP_024304269.1:p.Phe788Ile | |
| XM_024448502.1:c.2362T>A | XP_024304270.1:p.Phe788Ile | |
| XM_024448503.1:c.2332T>A | XP_024304271.1:p.Phe778Ile | |
| XM_024448504.1:c.2296T>A | XP_024304272.1:p.Phe766Ile | |
| XM_024448505.1:c.2362T>A | XP_024304273.1:p.Phe788Ile | |
| NM_001567.4:c.2164T>A MANE Select | NP_001558.3:p.Phe722Ile |