Linked Data
ClinVar Variation Id:
166891
dbSNP Id:
rs201162411
ExAC:
16:57935275 T / A
gnomAD v2:
16-57935275-T-A
gnomAD v3:
16-57901371-T-A
gnomAD v4:
16-57901371-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57901371T>A , CM000678.2:g.57901371T>A | GRCh38 |
| NC_000016.9:g.57935275T>A , CM000678.1:g.57935275T>A | GRCh37 |
| NC_000016.8:g.56492776T>A | NCBI36 |
| NG_016351.1:g.74746A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.2957A>T MANE Select | ENSP00000251102.8:p.Asn986Ile | |
| ENST00000251102.12:c.2957A>T | ENSP00000251102.8:p.Asn986Ile | |
| ENST00000564448.5:c.2939A>T | ENSP00000454633.1:p.Asn980Ile | |
| ENST00000565942.1:c.3A>T | ||
| ENST00000569643.1:n.614A>T | ||
| NM_001286130.1:c.2939A>T | NP_001273059.1:p.Asn980Ile | |
| NM_001297.4:c.2957A>T | NP_001288.3:p.Asn986Ile | |
| XM_006721134.2:c.2957A>T | XP_006721197.1:p.Asn986Ile | |
| XM_011522870.1:c.1808A>T | XP_011521172.1:p.Asn603Ile | |
| XM_011522870.2:c.1808A>T | XP_011521172.1:p.Asn603Ile | |
| NM_001286130.2:c.2939A>T | NP_001273059.1:p.Asn980Ile | |
| NM_001297.5:c.2957A>T MANE Select | NP_001288.3:p.Asn986Ile |