Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96143467G>T , CM000664.2:g.96143467G>T | GRCh38 |
| NC_000002.11:g.96809206G>T , CM000664.1:g.96809206G>T | GRCh37 |
| NC_000002.10:g.96172933G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288943.5:c.*356C>A MANE Select | ENSP00000288943.4:n.*356C>A | |
| ENST00000288943.4:c.*356C>A | ENSP00000288943.4:n.*356C>A | |
| NM_004418.3:c.*356C>A | NP_004409.1:n.*356C>A | |
| XM_017003546.1:c.*356C>A | XP_016859035.1:n.*356C>A | |
| NM_004418.4:c.*356C>A MANE Select | NP_004409.1:n.*356C>A |