Linked Data
dbSNP Id:
rs11548323
gnomAD v2:
1-27731651-C-T
gnomAD v3:
1-27405147-C-T
gnomAD v4:
1-27405147-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.27405147C>T , CM000663.2:g.27405147C>T | GRCh38 |
| NC_000001.10:g.27731651C>T , CM000663.1:g.27731651C>T | GRCh37 |
| NC_000001.9:g.27604238C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000618852.5:c.*3042G>A MANE Select | ENSP00000483313.1:n.*3042G>A | |
| ENST00000618852.4:c.*3042G>A | ENSP00000483313.1:n.*3042G>A | |
| NM_001201404.2:c.*3178G>A | NP_001188333.1:n.*3178G>A | |
| NM_006990.4:c.*3042G>A | NP_008921.1:n.*3042G>A | |
| NM_006990.5:c.*3042G>A MANE Select | NP_008921.1:n.*3042G>A | |
| NM_001201404.3:c.*3178G>A | NP_001188333.1:n.*3178G>A |