Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228159083G>T , CM000663.2:g.228159083G>T | GRCh38 |
| NC_000001.10:g.228346784G>T , CM000663.1:g.228346784G>T | GRCh37 |
| NC_000001.9:g.226413407G>T | NCBI36 |
| NG_011838.1:g.14232G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020435.4:c.*5G>T MANE Select | NP_065168.2:n.*5G>T |
| ENST00000366714.3:c.*5G>T MANE Select | ENSP00000355675.2:n.*5G>T |
| NM_020435.3:c.*5G>T | NP_065168.2:n.*5G>T |
| ENST00000366714.2:c.*5G>T | ENSP00000355675.2:n.*5G>T |