Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533997G>A , CM000681.2:g.7533997G>A | GRCh38 |
| NC_000019.9:g.7598883G>A , CM000681.1:g.7598883G>A | GRCh37 |
| NC_000019.8:g.7504883G>A | NCBI36 |
| NG_013374.1:g.4846G>A | |
| NG_015806.1:g.16388G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*202G>A MANE Select | ENSP00000264079.5:n.*202G>A | |
| ENST00000264079.10:c.*202G>A | ENSP00000264079.5:n.*202G>A | |
| ENST00000601870.1:c.169+129G>A | ||
| NM_020533.2:c.*202G>A | NP_065394.1:n.*202G>A | |
| NM_020533.3:c.*202G>A MANE Select | NP_065394.1:n.*202G>A |