Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.15766553G>A , CM000670.2:g.15766553G>A | GRCh38 |
| NC_000008.10:g.15624062G>A , CM000670.1:g.15624062G>A | GRCh37 |
| NC_000008.9:g.15668433G>A | NCBI36 |
| NG_012141.2:g.231333G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006765.4:c.*2397G>A MANE Select | NP_006756.2:n.*2397G>A |
| ENST00000503731.6:c.*2397G>A MANE Select | ENSP00000424544.1:n.*2397G>A |
| NM_006765.3:c.*2397G>A | NP_006756.2:n.*2397G>A |
| NM_178234.2:c.*2335G>A | NP_839952.1:n.*2335G>A |
| ENST00000382020.8:c.*2335G>A | ENSP00000371450.4:n.*2335G>A |