Linked Data
ClinVar Variation Id:
407235
dbSNP Id:
rs375218798
ExAC:
5:13883123 C / T
gnomAD v2:
5-13883123-C-T
gnomAD v3:
5-13883014-C-T
gnomAD v4:
5-13883014-C-T
COSMIC:
COSM181330
PubMed:
PMID:25363768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13883014C>T , CM000667.2:g.13883014C>T | GRCh38 |
| NC_000005.9:g.13883123C>T , CM000667.1:g.13883123C>T | GRCh37 |
| NC_000005.8:g.13936123C>T | NCBI36 |
| NG_013081.1:g.66467G>A | |
| NG_013081.2:g.66467G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.3064G>A MANE Select | ENSP00000265104.4:p.Val1022Ile | |
| ENST00000681290.1:c.3019G>A | ENSP00000505288.1:p.Val1007Ile | |
| ENST00000265104.4:c.3064G>A | ENSP00000265104.4:p.Val1022Ile | |
| NM_001369.2:c.3064G>A | NP_001360.1:p.Val1022Ile | |
| XM_005248262.2:c.3019G>A | XP_005248319.1:p.Val1007Ile | |
| XM_011513990.1:c.3064G>A | XP_011512292.1:p.Val1022Ile | |
| XR_925598.1:n.3271G>A | ||
| XM_005248262.3:c.3172G>A | XP_005248319.2:p.Val1058Ile | |
| XM_017009177.1:c.3172G>A | XP_016864666.1:p.Val1058Ile | |
| XM_017009178.1:c.2077G>A | XP_016864667.1:p.Val693Ile | |
| XM_017009179.2:c.2077G>A | XP_016864668.1:p.Val693Ile | |
| XM_017009180.1:c.3172G>A | XP_016864669.1:p.Val1058Ile | |
| XM_017009181.1:c.3172G>A | XP_016864670.1:p.Val1058Ile | |
| XM_017009182.1:c.3172G>A | XP_016864671.1:p.Val1058Ile | |
| XM_017009183.1:c.3172G>A | XP_016864672.1:p.Val1058Ile | |
| XM_017009184.1:c.3172G>A | XP_016864673.1:p.Val1058Ile | |
| XM_017009187.1:c.3172G>A | XP_016864676.1:p.Val1058Ile | |
| XM_024454388.1:c.2077G>A | XP_024310156.1:p.Val693Ile | |
| XM_024454389.1:c.1666G>A | XP_024310157.1:p.Val556Ile | |
| XR_001742034.1:n.3189G>A | ||
| XR_001742035.1:n.3189G>A | ||
| NM_001369.3:c.3064G>A MANE Select | NP_001360.1:p.Val1022Ile |