Linked Data
ClinVar Variation Id:
351060
dbSNP Id:
rs151287187
ExAC:
5:13809221 T / A
gnomAD v2:
5-13809221-T-A
gnomAD v3:
5-13809112-T-A
gnomAD v4:
5-13809112-T-A
COSMIC:
COSM1236008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13809112T>A , CM000667.2:g.13809112T>A | GRCh38 |
| NC_000005.9:g.13809221T>A , CM000667.1:g.13809221T>A | GRCh37 |
| NC_000005.8:g.13862221T>A | NCBI36 |
| NG_013081.1:g.140369A>T | |
| NG_013081.2:g.140369A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.7684A>T MANE Select | ENSP00000265104.4:p.Ile2562Phe | |
| ENST00000681290.1:c.7639A>T | ENSP00000505288.1:p.Ile2547Phe | |
| ENST00000265104.4:c.7684A>T | ENSP00000265104.4:p.Ile2562Phe | |
| ENST00000512443.1:n.540A>T | ||
| NM_001369.2:c.7684A>T | NP_001360.1:p.Ile2562Phe | |
| XM_005248262.2:c.7639A>T | XP_005248319.1:p.Ile2547Phe | |
| XM_011513990.1:c.7684A>T | XP_011512292.1:p.Ile2562Phe | |
| XR_925598.1:n.7891A>T | ||
| XM_005248262.3:c.7792A>T | XP_005248319.2:p.Ile2598Phe | |
| XM_017009177.1:c.7792A>T | XP_016864666.1:p.Ile2598Phe | |
| XM_017009178.1:c.6697A>T | XP_016864667.1:p.Ile2233Phe | |
| XM_017009179.2:c.6697A>T | XP_016864668.1:p.Ile2233Phe | |
| XM_017009180.1:c.7792A>T | XP_016864669.1:p.Ile2598Phe | |
| XM_017009181.1:c.7792A>T | XP_016864670.1:p.Ile2598Phe | |
| XM_017009182.1:c.7792A>T | XP_016864671.1:p.Ile2598Phe | |
| XM_017009183.1:c.7792A>T | XP_016864672.1:p.Ile2598Phe | |
| XM_017009184.1:c.7792A>T | XP_016864673.1:p.Ile2598Phe | |
| XM_017009185.1:c.2881A>T | XP_016864674.1:p.Ile961Phe | |
| XM_017009186.1:c.2434A>T | XP_016864675.1:p.Ile812Phe | |
| XM_017009187.1:c.7792A>T | XP_016864676.1:p.Ile2598Phe | |
| XM_017009188.1:c.1771A>T | XP_016864677.1:p.Ile591Phe | |
| XM_024454388.1:c.6697A>T | XP_024310156.1:p.Ile2233Phe | |
| XM_024454389.1:c.6286A>T | XP_024310157.1:p.Ile2096Phe | |
| XR_001742034.1:n.7809A>T | ||
| XR_001742035.1:n.7809A>T | ||
| NM_001369.3:c.7684A>T MANE Select | NP_001360.1:p.Ile2562Phe |