Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18130687T= , CM000668.2:g.18130687T= | GRCh38 |
| NC_000006.11:g.18130918T= , CM000668.1:g.18130918T= | GRCh37 |
| NC_000006.10:g.18238897T= | NCBI36 |
| NG_012137.2:g.29457A= | |
| NG_012137.3:g.29457A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309983.5:c.719A= MANE Select | ENSP00000312304.4:p.Tyr240= | |
| ENST00000309983.4:c.719A= | ENSP00000312304.4:p.Tyr240= | |
| NM_000367.3:c.719A= | NP_000358.1:p.Tyr240= | |
| XM_011514839.1:c.674A= | XP_011513141.1:p.Tyr225= | |
| XM_011514840.1:c.650A= | XP_011513142.1:p.Tyr217= | |
| NM_000367.4:c.719A= | NP_000358.1:p.Tyr240= | |
| NM_001346817.1:c.719A= | NP_001333746.1:p.Tyr240= | |
| NM_001346818.1:c.674A= | NP_001333747.1:p.Tyr225= | |
| NM_000367.5:c.719A= MANE Select | NP_000358.1:p.Tyr240= |