dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.19590937G>T , CM000682.2:g.19590937G>T | GRCh38 |
| NC_000020.10:g.19571581G>T , CM000682.1:g.19571581G>T | GRCh37 |
| NC_000020.9:g.19519581G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328041.11:c.612+5393G>T MANE Select | ENSP00000333519.5:n.612+5393G>T | |
| ENST00000328041.10:c.612+5393G>T | ENSP00000333519.5:n.612+5393G>T | |
| ENST00000613834.1:c.612+5393G>T | ENSP00000482967.1:n.612+5393G>T | |
| NM_020689.3:c.612+5393G>T | NP_065740.2:n.612+5393G>T | |
| NM_020689.4:c.612+5393G>T MANE Select | NP_065740.2:n.612+5393G>T |