Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69223185C= , CM000672.2:g.69223185C= | GRCh38 |
| NC_000010.10:g.70982941C= , CM000672.1:g.70982941C= | GRCh37 |
| NC_000010.9:g.70652947C= | NCBI36 |
| NG_051555.1:g.7883C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025130.4:c.63+2687C= MANE Select | NP_079406.4:n.63+2687C= |
| ENST00000354624.6:c.63+2687C= MANE Select | ENSP00000346643.5:n.63+2687C= |
| NM_025130.3:c.63+2687C= | NP_079406.3:n.63+2687C= |
| NR_120648.1:n.326G= | |
| ENST00000354624.5:c.63+2687C= | ENSP00000346643.5:n.63+2687C= |
| XM_011540195.1:c.63+2687C= | XP_011538497.1:n.63+2687C= |
| XM_011540195.2:c.63+2687C= | XP_011538497.1:n.63+2687C= |
| XR_001747209.1:n.196+2687C= | |
| XR_945818.1:n.196+2687C= |