dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7656359G>T , CM000679.2:g.7656359G>T | GRCh38 |
| NC_000017.10:g.7559677G>T , CM000679.1:g.7559677G>T | GRCh37 |
| NC_000017.9:g.7500402G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250111.9:c.*464G>T MANE Select | ENSP00000250111.4:n.*464G>T | |
| ENST00000250111.8:c.*464G>T | ENSP00000250111.4:n.*464G>T | |
| NM_001303263.1:c.*464G>T | NP_001290192.1:n.*464G>T | |
| NM_001678.4:c.*464G>T | NP_001669.3:n.*464G>T | |
| NM_001678.5:c.*464G>T MANE Select | NP_001669.3:n.*464G>T | |
| NM_001303263.2:c.*464G>T | NP_001290192.1:n.*464G>T |