Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44375719G= , CM000679.2:g.44375719G= | GRCh38 |
| NC_000017.10:g.42453087G= , CM000679.1:g.42453087G= | GRCh37 |
| NC_000017.9:g.39808613G= | NCBI36 |
| NG_008331.1:g.18787C= , LRG_479:g.18787C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000419.5:c.2602-3C= MANE Select | NP_000410.2:n.2602-3C= |
| ENST00000262407.6:c.2602-3C= MANE Select | ENSP00000262407.5:n.2602-3C= |
| NM_000419.3:c.2602-3C= , LRG_479t1:c.2602-3C= | NP_000410.2:n.2602-3C= |
| NM_000419.4:c.2602-3C= | NP_000410.2:n.2602-3C= |
| ENST00000262407.5:c.2602-3C= | ENSP00000262407.5:n.2602-3C= |
| ENST00000587295.5:c.253+114C= | |
| ENST00000592462.5:n.1397-3C= | |
| ENST00000648408.1:c.2033-3C= | |
| XM_011524749.1:c.2602-3C= | XP_011523051.1:n.2602-3C= |
| XM_011524750.1:c.2602-3C= | XP_011523052.1:n.2602-3C= |