Linked Data
ClinVar Variation Id:
440135
dbSNP Id:
rs139945204
ExAC:
16:2150466 T / A
gnomAD v2:
16-2150466-T-A
gnomAD v3:
16-2100465-T-A
gnomAD v4:
16-2100465-T-A
PubMed:
PMID:11967008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2100465T>A , CM000678.2:g.2100465T>A | GRCh38 |
| NC_000016.9:g.2150466T>A , CM000678.1:g.2150466T>A | GRCh37 |
| NC_000016.8:g.2090467T>A | NCBI36 |
| NG_008617.1:g.42756A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.9499A>T MANE Select | ENSP00000262304.4:p.Ile3167Phe | |
| ENST00000262304.8:c.9499A>T | ENSP00000262304.4:p.Ile3167Phe | |
| ENST00000415938.7:n.2578A>T | ||
| ENST00000423118.5:c.9499A>T | ENSP00000399501.1:p.Ile3167Phe | |
| ENST00000469851.1:n.222A>T | ||
| ENST00000471603.6:n.1143A>T | ||
| ENST00000480227.5:n.1236A>T | ||
| ENST00000483731.5:n.3385A>T | ||
| ENST00000483814.1:n.301A>T | ||
| ENST00000486339.6:n.3635A>T | ||
| ENST00000487932.5:c.4061A>T | ENSP00000457132.1:n.4061A>T | |
| ENST00000496574.6:n.3735A>T | ||
| ENST00000562297.5:n.1232A>T | ||
| ENST00000567946.1:c.1101A>T | ||
| NM_000296.3:c.9499A>T | NP_000287.3:p.Ile3167Phe | |
| NM_001009944.2:c.9499A>T | NP_001009944.2:p.Ile3167Phe | |
| XM_005255370.2:c.6454A>T | XP_005255427.1:p.Ile2152Phe | |
| XM_011522525.1:c.9577A>T | XP_011520827.1:p.Ile3193Phe | |
| XM_011522526.1:c.9577A>T | XP_011520828.1:p.Ile3193Phe | |
| XM_011522527.1:c.9559A>T | XP_011520829.1:p.Ile3187Phe | |
| XM_011522528.1:c.9553A>T | XP_011520830.1:p.Ile3185Phe | |
| XM_011522529.1:c.9553A>T | XP_011520831.1:p.Ile3185Phe | |
| XM_011522530.1:c.9523A>T | XP_011520832.1:p.Ile3175Phe | |
| XM_011522531.1:c.9505A>T | XP_011520833.1:p.Ile3169Phe | |
| XM_011522532.1:c.9451A>T | XP_011520834.1:p.Ile3151Phe | |
| XM_011522533.1:c.9370A>T | XP_011520835.1:p.Ile3124Phe | |
| XM_011522534.1:c.9313A>T | XP_011520836.1:p.Ile3105Phe | |
| XM_011522535.1:c.7399A>T | XP_011520837.1:p.Ile2467Phe | |
| XM_011522536.1:c.9577A>T | XP_011520838.1:p.Ile3193Phe | |
| XM_011522537.1:c.6577A>T | XP_011520839.1:p.Ile2193Phe | |
| XR_932867.1:n.9592A>T | ||
| XR_932868.1:n.9592A>T | ||
| XR_932869.1:n.9592A>T | ||
| XR_932870.1:n.9592A>T | ||
| XM_005255370.3:c.6454A>T | XP_005255427.1:p.Ile2152Phe | |
| XM_011522528.3:c.9553A>T | XP_011520830.1:p.Ile3185Phe | |
| XM_011522529.2:c.9553A>T | XP_011520831.1:p.Ile3185Phe | |
| XM_011522537.2:c.6577A>T | XP_011520839.1:p.Ile2193Phe | |
| XM_024450298.1:c.9619A>T | XP_024306066.1:p.Ile3207Phe | |
| XM_024450299.1:c.9547A>T | XP_024306067.1:p.Ile3183Phe | |
| XM_024450300.1:c.9409A>T | XP_024306068.1:p.Ile3137Phe | |
| XM_024450301.1:c.7495A>T | XP_024306069.1:p.Ile2499Phe | |
| NM_000296.4:c.9499A>T | NP_000287.4:p.Ile3167Phe | |
| NM_001009944.3:c.9499A>T MANE Select | NP_001009944.3:p.Ile3167Phe |