Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992991C>T , CM000667.2:g.177992991C>T | GRCh38 |
| NC_000005.9:g.177419992C>T , CM000667.1:g.177419992C>T | GRCh37 |
| NC_000005.8:g.177352598C>T | NCBI36 |
| NG_015889.1:g.8252G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.399G>A MANE Select | ENSP00000311290.2:p.Gln133= | |
| NM_006261.4:c.399G>A | NP_006252.3:p.Gln133= | |
| NM_006261.5:c.399G>A MANE Select | NP_006252.4:p.Gln133= |