Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69247578A>G , CM000672.2:g.69247578A>G | GRCh38 |
| NC_000010.10:g.71007334A>G , CM000672.1:g.71007334A>G | GRCh37 |
| NC_000010.9:g.70677340A>G | NCBI36 |
| NG_051555.1:g.32276A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025130.4:c.1250A>G MANE Select | NP_079406.4:p.Tyr417Cys |
| ENST00000354624.6:c.1250A>G MANE Select | ENSP00000346643.5:p.Tyr417Cys |
| NM_025130.3:c.1250A>G | NP_079406.3:p.Tyr417Cys |
| ENST00000354624.5:c.1250A>G | ENSP00000346643.5:p.Tyr417Cys |
| ENST00000488706.1:n.69A>G | |
| XM_011540195.1:c.1250A>G | XP_011538497.1:p.Tyr417Cys |
| XM_011540195.2:c.1250A>G | XP_011538497.1:p.Tyr417Cys |
| XR_001747209.1:n.1383A>G | |
| XR_945818.1:n.1383A>G |