Linked Data
ClinVar Variation Id:
320054
dbSNP Id:
rs202083169
ExAC:
16:57918107 C / A
gnomAD v2:
16-57918107-C-A
gnomAD v3:
16-57884203-C-A
gnomAD v4:
16-57884203-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57884203C>A , CM000678.2:g.57884203C>A | GRCh38 |
| NC_000016.9:g.57918107C>A , CM000678.1:g.57918107C>A | GRCh37 |
| NC_000016.8:g.56475608C>A | NCBI36 |
| NG_016351.1:g.91914G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.3717G>T MANE Select | ENSP00000251102.8:p.Ser1239= | |
| ENST00000251102.12:c.3717G>T | ENSP00000251102.8:p.Ser1239= | |
| ENST00000564448.5:c.3699G>T | ENSP00000454633.1:p.Ser1233= | |
| NM_001286130.1:c.3699G>T | NP_001273059.1:p.Ser1233= | |
| NM_001297.4:c.3717G>T | NP_001288.3:p.Ser1239= | |
| XM_006721134.2:c.3717G>T | XP_006721197.1:p.Ser1239= | |
| XM_011522870.1:c.2568G>T | XP_011521172.1:p.Ser856= | |
| XM_011522870.2:c.2568G>T | XP_011521172.1:p.Ser856= | |
| NM_001286130.2:c.3699G>T | NP_001273059.1:p.Ser1233= | |
| NM_001297.5:c.3717G>T MANE Select | NP_001288.3:p.Ser1239= |