Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94401572T= , CM000669.2:g.94401572T= | GRCh38 |
| NC_000007.13:g.94030884T= , CM000669.1:g.94030884T= | GRCh37 |
| NC_000007.12:g.93868820T= | NCBI36 |
| NG_007405.1:g.12012T= , LRG_2:g.12012T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.231T= MANE Select | ENSP00000297268.6:p.Phe77= | |
| ENST00000297268.10:c.231T= | ENSP00000297268.6:p.Phe77= | |
| ENST00000620463.1:c.225T= | ENSP00000477719.1:p.Phe75= | |
| NM_000089.3:c.231T= , LRG_2t1:c.231T= | NP_000080.2:p.Phe77= | |
| NM_000089.4:c.231T= MANE Select | NP_000080.2:p.Phe77= |