Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50117531C>T , CM000676.2:g.50117531C>T | GRCh38 |
| NC_000014.8:g.50584249C>T , CM000676.1:g.50584249C>T | GRCh37 |
| NC_000014.7:g.49653999C>T | NCBI36 |
| NG_051073.1:g.119163G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.*813G>A MANE Select | ENSP00000216373.5:n.*813G>A | |
| ENST00000216373.9:c.*813G>A | ENSP00000216373.5:n.*813G>A | |
| NM_006939.2:c.*813G>A | NP_008870.2:n.*813G>A | |
| XM_005268021.1:c.*813G>A | XP_005268078.1:n.*813G>A | |
| XM_011537103.1:c.*813G>A | XP_011535405.1:n.*813G>A | |
| NM_006939.3:c.*813G>A | NP_008870.2:n.*813G>A | |
| NM_006939.4:c.*813G>A MANE Select | NP_008870.2:n.*813G>A |