Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50944366T>C , CM000676.2:g.50944366T>C | GRCh38 |
| NC_000014.8:g.51411084T>C , CM000676.1:g.51411084T>C | GRCh37 |
| NC_000014.7:g.50480834T>C | NCBI36 |
| NG_012796.1:g.5165A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216392.8:c.38A>G MANE Select | ENSP00000216392.7:p.Gln13Arg | |
| ENST00000216392.7:c.38A>G | ENSP00000216392.7:p.Gln13Arg | |
| ENST00000530336.2:n.105A>G | ||
| ENST00000532462.5:c.38A>G | ENSP00000431657.1:p.Gln13Arg | |
| ENST00000544180.6:c.38A>G | ENSP00000443787.1:p.Gln13Arg | |
| NM_001163940.1:c.38A>G | NP_001157412.1:p.Gln13Arg | |
| NM_002863.4:c.38A>G | NP_002854.3:p.Gln13Arg | |
| NM_002863.5:c.38A>G MANE Select | NP_002854.3:p.Gln13Arg | |
| NM_001163940.2:c.38A>G | NP_001157412.1:p.Gln13Arg |