Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992848G>A , CM000667.2:g.177992848G>A | GRCh38 |
| NC_000005.9:g.177419849G>A , CM000667.1:g.177419849G>A | GRCh37 |
| NC_000005.8:g.177352455G>A | NCBI36 |
| NG_015889.1:g.8395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.542C>T MANE Select | ENSP00000311290.2:p.Thr181Ile | |
| NM_006261.4:c.542C>T | NP_006252.3:p.Thr181Ile | |
| NM_006261.5:c.542C>T MANE Select | NP_006252.4:p.Thr181Ile |