Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44378640C>A , CM000679.2:g.44378640C>A | GRCh38 |
| NC_000017.10:g.42456008C>A , CM000679.1:g.42456008C>A | GRCh37 |
| NC_000017.9:g.39811534C>A | NCBI36 |
| NG_008331.1:g.15866G>T , LRG_479:g.15866G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000419.5:c.1946+3G>T MANE Select | NP_000410.2:n.1946+3G>T |
| ENST00000262407.6:c.1946+3G>T MANE Select | ENSP00000262407.5:n.1946+3G>T |
| NM_000419.3:c.1946+3G>T , LRG_479t1:c.1946+3G>T | NP_000410.2:n.1946+3G>T |
| NM_000419.4:c.1946+3G>T | NP_000410.2:n.1946+3G>T |
| ENST00000262407.5:c.1946+3G>T | ENSP00000262407.5:n.1946+3G>T |
| ENST00000592462.5:n.741+3G>T | |
| ENST00000648408.1:c.1377+3G>T | |
| XM_011524749.1:c.1946+3G>T | XP_011523051.1:n.1946+3G>T |
| XM_011524750.1:c.1946+3G>T | XP_011523052.1:n.1946+3G>T |