Linked Data
ClinVar Variation Id:
93696
dbSNP Id:
rs1052029
ExAC:
16:57965676 C / T
gnomAD v2:
16-57965676-C-T
gnomAD v3:
16-57931772-C-T
gnomAD v4:
16-57931772-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57931772C>T , CM000678.2:g.57931772C>T | GRCh38 |
| NC_000016.9:g.57965676C>T , CM000678.1:g.57965676C>T | GRCh37 |
| NC_000016.8:g.56523177C>T | NCBI36 |
| NG_016351.1:g.44345G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.1479G>A MANE Select | ENSP00000251102.8:p.Pro493= | |
| ENST00000251102.12:c.1479G>A | ENSP00000251102.8:p.Pro493= | |
| ENST00000564448.5:c.1461G>A | ENSP00000454633.1:p.Pro487= | |
| ENST00000564450.1:n.120+7658G>A | ||
| ENST00000564654.1:n.868G>A | ||
| NM_001286130.1:c.1461G>A | NP_001273059.1:p.Pro487= | |
| NM_001297.4:c.1479G>A | NP_001288.3:p.Pro493= | |
| XM_006721134.2:c.1479G>A | XP_006721197.1:p.Pro493= | |
| XM_011522870.1:c.330G>A | XP_011521172.1:p.Pro110= | |
| XM_011522870.2:c.330G>A | XP_011521172.1:p.Pro110= | |
| NM_001286130.2:c.1461G>A | NP_001273059.1:p.Pro487= | |
| NM_001297.5:c.1479G>A MANE Select | NP_001288.3:p.Pro493= |