Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44378712T= , CM000679.2:g.44378712T= | GRCh38 |
| NC_000017.10:g.42456080T= , CM000679.1:g.42456080T= | GRCh37 |
| NC_000017.9:g.39811606T= | NCBI36 |
| NG_008331.1:g.15794A= , LRG_479:g.15794A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000419.5:c.1879-2A= MANE Select | NP_000410.2:n.1879-2A= |
| ENST00000262407.6:c.1879-2A= MANE Select | ENSP00000262407.5:n.1879-2A= |
| NM_000419.3:c.1879-2A= , LRG_479t1:c.1879-2A= | NP_000410.2:n.1879-2A= |
| NM_000419.4:c.1879-2A= | NP_000410.2:n.1879-2A= |
| ENST00000262407.5:c.1879-2A= | ENSP00000262407.5:n.1879-2A= |
| ENST00000592462.5:n.674-2A= | |
| ENST00000648408.1:c.1310-2A= | |
| XM_011524749.1:c.1879-2A= | XP_011523051.1:n.1879-2A= |
| XM_011524750.1:c.1879-2A= | XP_011523052.1:n.1879-2A= |