Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50905338T>C , CM000676.2:g.50905338T>C | GRCh38 |
| NC_000014.8:g.51372056T>C , CM000676.1:g.51372056T>C | GRCh37 |
| NC_000014.7:g.50441806T>C | NCBI36 |
| NG_012796.1:g.44193A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.*54A>G MANE Select | ENSP00000216392.7:n.*54A>G | |
| ENST00000216392.7:c.*54A>G | ENSP00000216392.7:n.*54A>G | |
| ENST00000532462.5:c.2379+2933A>G | ENSP00000431657.1:n.2379+2933A>G | |
| ENST00000544180.6:c.*54A>G | ENSP00000443787.1:n.*54A>G | |
| NM_001163940.1:c.*54A>G | NP_001157412.1:n.*54A>G | |
| NM_002863.4:c.*54A>G | NP_002854.3:n.*54A>G | |
| NM_002863.5:c.*54A>G MANE Select | NP_002854.3:n.*54A>G | |
| NM_001163940.2:c.*54A>G | NP_001157412.1:n.*54A>G |