Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533768G>A , CM000681.2:g.7533768G>A | GRCh38 |
| NC_000019.9:g.7598654G>A , CM000681.1:g.7598654G>A | GRCh37 |
| NC_000019.8:g.7504654G>A | NCBI36 |
| NG_013374.1:g.4617G>A | |
| NG_015806.1:g.16159G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1716G>A MANE Select | ENSP00000264079.5:p.Ser572= | |
| ENST00000264079.10:c.1716G>A | ENSP00000264079.5:p.Ser572= | |
| ENST00000394321.9:n.2031G>A | ||
| ENST00000599334.1:c.444G>A | ||
| ENST00000601870.1:c.69G>A | ||
| ENST00000602227.1:n.270G>A | ||
| NM_020533.2:c.1716G>A | NP_065394.1:p.Ser572= | |
| NM_020533.3:c.1716G>A MANE Select | NP_065394.1:p.Ser572= |