Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73200000C>T , CM000679.2:g.73200000C>T | GRCh38 |
| NC_000017.10:g.71196139C>T , CM000679.1:g.71196139C>T | GRCh37 |
| NC_000017.9:g.68707734C>T | NCBI36 |
| NG_008971.1:g.11967C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018714.3:c.1049C>T MANE Select | NP_061184.1:p.Thr350Met |
| ENST00000299886.9:c.1049C>T MANE Select | ENSP00000299886.4:p.Thr350Met |
| NM_018714.2:c.1049C>T | NP_061184.1:p.Thr350Met |
| ENST00000299886.8:c.1049C>T | ENSP00000299886.4:p.Thr350Met |
| ENST00000438720.7:c.1047C>T | |
| ENST00000618996.4:c.1049C>T | ENSP00000479450.1:p.Thr350Met |