Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102838056G= , CM000673.2:g.102838056G= | GRCh38 |
| NC_000011.9:g.102708787G= , CM000673.1:g.102708787G= | GRCh37 |
| NC_000011.8:g.102213997G= | NCBI36 |
| NG_012100.1:g.10556C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002422.5:c.1229+495C= MANE Select | NP_002413.1:n.1229+495C= |
| ENST00000299855.10:c.1229+495C= MANE Select | ENSP00000299855.5:n.1229+495C= |
| NM_002422.3:c.1229+495C= | NP_002413.1:n.1229+495C= |
| NM_002422.4:c.1229+495C= | NP_002413.1:n.1229+495C= |
| ENST00000299855.9:c.1229+495C= | ENSP00000299855.5:n.1229+495C= |
| ENST00000434103.1:c.160+495C= |