Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50905355A>T , CM000676.2:g.50905355A>T | GRCh38 |
| NC_000014.8:g.51372073A>T , CM000676.1:g.51372073A>T | GRCh37 |
| NC_000014.7:g.50441823A>T | NCBI36 |
| NG_012796.1:g.44176T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.*37T>A MANE Select | ENSP00000216392.7:n.*37T>A | |
| ENST00000216392.7:c.*37T>A | ENSP00000216392.7:n.*37T>A | |
| ENST00000532462.5:c.2379+2916T>A | ENSP00000431657.1:n.2379+2916T>A | |
| ENST00000544180.6:c.*37T>A | ENSP00000443787.1:n.*37T>A | |
| NM_001163940.1:c.*37T>A | NP_001157412.1:n.*37T>A | |
| NM_002863.4:c.*37T>A | NP_002854.3:n.*37T>A | |
| NM_002863.5:c.*37T>A MANE Select | NP_002854.3:n.*37T>A | |
| NM_001163940.2:c.*37T>A | NP_001157412.1:n.*37T>A |