Linked Data
dbSNP Id:
rs931124801
gnomAD v2:
1-171621828-C-T
gnomAD v3:
1-171652688-C-T
gnomAD v4:
1-171652688-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652688C>T , CM000663.2:g.171652688C>T | GRCh38 |
| NC_000001.10:g.171621828C>T , CM000663.1:g.171621828C>T | GRCh37 |
| NC_000001.9:g.169888451C>T | NCBI36 |
| NG_008859.1:g.4946G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.-77G>A MANE Select | ENSP00000037502.5:n.-77G>A | |
| NM_000261.2:c.-77G>A MANE Select | NP_000252.1:n.-77G>A |