Linked Data
ClinVar Variation Id:
320057
dbSNP Id:
rs201186180
ExAC:
16:57918240 G / C
gnomAD v2:
16-57918240-G-C
gnomAD v3:
16-57884336-G-C
gnomAD v4:
16-57884336-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57884336G>C , CM000678.2:g.57884336G>C | GRCh38 |
| NC_000016.9:g.57918240G>C , CM000678.1:g.57918240G>C | GRCh37 |
| NC_000016.8:g.56475741G>C | NCBI36 |
| NG_016351.1:g.91781C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.3584C>G MANE Select | ENSP00000251102.8:p.Ser1195Cys | |
| ENST00000251102.12:c.3584C>G | ENSP00000251102.8:p.Ser1195Cys | |
| ENST00000564448.5:c.3566C>G | ENSP00000454633.1:p.Ser1189Cys | |
| NM_001286130.1:c.3566C>G | NP_001273059.1:p.Ser1189Cys | |
| NM_001297.4:c.3584C>G | NP_001288.3:p.Ser1195Cys | |
| XM_006721134.2:c.3584C>G | XP_006721197.1:p.Ser1195Cys | |
| XM_011522870.1:c.2435C>G | XP_011521172.1:p.Ser812Cys | |
| XM_011522870.2:c.2435C>G | XP_011521172.1:p.Ser812Cys | |
| NM_001286130.2:c.3566C>G | NP_001273059.1:p.Ser1189Cys | |
| NM_001297.5:c.3584C>G MANE Select | NP_001288.3:p.Ser1195Cys |