Linked Data
ClinVar Variation Id:
320064
dbSNP Id:
rs201319323
ExAC:
16:57921912 C / T
gnomAD v2:
16-57921912-C-T
gnomAD v3:
16-57888008-C-T
gnomAD v4:
16-57888008-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57888008C>T , CM000678.2:g.57888008C>T | GRCh38 |
| NC_000016.9:g.57921912C>T , CM000678.1:g.57921912C>T | GRCh37 |
| NC_000016.8:g.56479413C>T | NCBI36 |
| NG_016351.1:g.88109G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.3309G>A MANE Select | ENSP00000251102.8:p.Ala1103= | |
| ENST00000251102.12:c.3309G>A | ENSP00000251102.8:p.Ala1103= | |
| ENST00000564448.5:c.3291G>A | ENSP00000454633.1:p.Ala1097= | |
| ENST00000565942.1:c.289-3551G>A | ||
| NM_001286130.1:c.3291G>A | NP_001273059.1:p.Ala1097= | |
| NM_001297.4:c.3309G>A | NP_001288.3:p.Ala1103= | |
| XM_006721134.2:c.3309G>A | XP_006721197.1:p.Ala1103= | |
| XM_011522870.1:c.2160G>A | XP_011521172.1:p.Ala720= | |
| XM_011522870.2:c.2160G>A | XP_011521172.1:p.Ala720= | |
| NM_001286130.2:c.3291G>A | NP_001273059.1:p.Ala1097= | |
| NM_001297.5:c.3309G>A MANE Select | NP_001288.3:p.Ala1103= |