Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372383T>A , CM000679.2:g.44372383T>A | GRCh38 |
| NC_000017.10:g.42449751T>A , CM000679.1:g.42449751T>A | GRCh37 |
| NC_000017.9:g.39805277T>A | NCBI36 |
| NG_008331.1:g.22123A>T , LRG_479:g.22123A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3101A>T MANE Select | ENSP00000262407.5:p.Asp1034Val | |
| ENST00000648408.1:c.2415A>T | ||
| ENST00000262407.5:c.3101A>T | ENSP00000262407.5:p.Asp1034Val | |
| ENST00000587295.5:c.294A>T | ||
| ENST00000588098.1:c.78A>T | ||
| NM_000419.3:c.3101A>T , LRG_479t1:c.3101A>T | NP_000410.2:p.Asp1034Val | |
| XM_011524749.1:c.2999A>T | XP_011523051.1:p.Asp1000Val | |
| XM_011524750.1:c.2984A>T | XP_011523052.1:p.Asp995Val | |
| NM_000419.4:c.3101A>T | NP_000410.2:p.Asp1034Val | |
| NM_000419.5:c.3101A>T MANE Select | NP_000410.2:p.Asp1034Val |