Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.155261059G>A , CM000685.2:g.155261059G>A | GRCh38 |
| NC_000023.10:g.154490344G>A , CM000685.1:g.154490344G>A | GRCh37 |
| NC_000023.9:g.154143538G>A | NCBI36 |
| NG_012626.2:g.8503C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_171998.4:c.386C>T MANE Select | NP_741995.1:p.Thr129Ile |
| ENST00000369454.4:c.386C>T MANE Select | ENSP00000358466.3:p.Thr129Ile |
| NM_171998.3:c.386C>T | NP_741995.1:p.Thr129Ile |
| ENST00000369454.3:c.386C>T | ENSP00000358466.3:p.Thr129Ile |