Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96262416A= , CM000676.2:g.96262416A= | GRCh38 |
| NC_000014.8:g.96728753A= , CM000676.1:g.96728753A= | GRCh37 |
| NC_000014.7:g.95798506A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000710.4:c.-129-236A= MANE Select | NP_000701.2:n.-129-236A= |
| ENST00000216629.11:c.-129-236A= MANE Select | ENSP00000216629.6:n.-129-236A= |
| NM_000710.3:c.-129-236A= | NP_000701.2:n.-129-236A= |
| NM_001386007.1:c.-10-1257A= | NP_001372936.1:n.-10-1257A= |
| ENST00000216629.10:c.-129-236A= | ENSP00000216629.6:n.-129-236A= |
| ENST00000553356.1:c.-129-236A= | ENSP00000452064.1:n.-129-236A= |
| ENST00000553811.1:c.75-236A= | ENSP00000450984.1:n.75-236A= |
| ENST00000555847.1:n.256-236A= |