Linked Data
ClinVar Variation Id:
320062
dbSNP Id:
rs751822516
ExAC:
16:57921855 C / T
gnomAD v2:
16-57921855-C-T
gnomAD v3:
16-57887951-C-T
gnomAD v4:
16-57887951-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57887951C>T , CM000678.2:g.57887951C>T | GRCh38 |
| NC_000016.9:g.57921855C>T , CM000678.1:g.57921855C>T | GRCh37 |
| NC_000016.8:g.56479356C>T | NCBI36 |
| NG_016351.1:g.88166G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.3366G>A MANE Select | ENSP00000251102.8:p.Lys1122= | |
| ENST00000251102.12:c.3366G>A | ENSP00000251102.8:p.Lys1122= | |
| ENST00000564448.5:c.3348G>A | ENSP00000454633.1:p.Lys1116= | |
| ENST00000565942.1:c.289-3494G>A | ||
| NM_001286130.1:c.3348G>A | NP_001273059.1:p.Lys1116= | |
| NM_001297.4:c.3366G>A | NP_001288.3:p.Lys1122= | |
| XM_006721134.2:c.3366G>A | XP_006721197.1:p.Lys1122= | |
| XM_011522870.1:c.2217G>A | XP_011521172.1:p.Lys739= | |
| XM_011522870.2:c.2217G>A | XP_011521172.1:p.Lys739= | |
| NM_001286130.2:c.3348G>A | NP_001273059.1:p.Lys1116= | |
| NM_001297.5:c.3366G>A MANE Select | NP_001288.3:p.Lys1122= |