Linked Data
dbSNP Id:
rs1042114
ExAC:
1:29138975 G / T
gnomAD v2:
1-29138975-G-T
gnomAD v3:
1-28812463-G-T
gnomAD v4:
1-28812463-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.28812463G>T , CM000663.2:g.28812463G>T | GRCh38 |
| NC_000001.10:g.29138975G>T , CM000663.1:g.29138975G>T | GRCh37 |
| NC_000001.9:g.29011562G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234961.7:c.80G>T MANE Select | ENSP00000234961.2:p.Cys27Phe | |
| ENST00000234961.6:c.80G>T | ENSP00000234961.2:p.Cys27Phe | |
| ENST00000621425.1:c.80G>T | ENSP00000477970.1:p.Cys27Phe | |
| NM_000911.3:c.80G>T | NP_000902.3:p.Cys27Phe | |
| NM_000911.4:c.80G>T MANE Select | NP_000902.3:p.Cys27Phe |