Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69232787G>A , CM000672.2:g.69232787G>A | GRCh38 |
| NC_000010.10:g.70992543G>A , CM000672.1:g.70992543G>A | GRCh37 |
| NC_000010.9:g.70662549G>A | NCBI36 |
| NG_051555.1:g.17485G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025130.4:c.250G>A MANE Select | NP_079406.4:p.Asp84Asn |
| ENST00000354624.6:c.250G>A MANE Select | ENSP00000346643.5:p.Asp84Asn |
| NM_025130.3:c.250G>A | NP_079406.3:p.Asp84Asn |
| ENST00000354624.5:c.250G>A | ENSP00000346643.5:p.Asp84Asn |
| XM_011540195.1:c.250G>A | XP_011538497.1:p.Asp84Asn |
| XM_011540195.2:c.250G>A | XP_011538497.1:p.Asp84Asn |
| XR_001747209.1:n.383G>A | |
| XR_945818.1:n.383G>A |