Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44380385C= , CM000679.2:g.44380385C= | GRCh38 |
| NC_000017.10:g.42457753C= , CM000679.1:g.42457753C= | GRCh37 |
| NC_000017.9:g.39813279C= | NCBI36 |
| NG_008331.1:g.14121G= , LRG_479:g.14121G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000419.5:c.1544+1G= MANE Select | NP_000410.2:n.1544+1G= |
| ENST00000262407.6:c.1544+1G= MANE Select | ENSP00000262407.5:n.1544+1G= |
| NM_000419.3:c.1544+1G= , LRG_479t1:c.1544+1G= | NP_000410.2:n.1544+1G= |
| NM_000419.4:c.1544+1G= | NP_000410.2:n.1544+1G= |
| ENST00000262407.5:c.1544+1G= | ENSP00000262407.5:n.1544+1G= |
| ENST00000592226.5:n.1017+1G= | |
| ENST00000592462.5:n.339+1G= | |
| ENST00000648408.1:c.975+1G= | |
| XM_011524749.1:c.1544+1G= | XP_011523051.1:n.1544+1G= |
| XM_011524750.1:c.1544+1G= | XP_011523052.1:n.1544+1G= |