Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123271146T>A , CM000668.2:g.123271146T>A | GRCh38 |
| NC_000006.11:g.123592291T>A , CM000668.1:g.123592291T>A | GRCh37 |
| NC_000006.10:g.123633990T>A | NCBI36 |
| NG_030438.1:g.370948A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006073.4:c.1713A>T MANE Select | NP_006064.2:p.Glu571Asp |
| ENST00000334268.9:c.1713A>T MANE Select | ENSP00000333984.5:p.Glu571Asp |
| NM_006073.3:c.1713A>T | NP_006064.2:p.Glu571Asp |
| ENST00000334268.8:c.1713A>T | ENSP00000333984.5:p.Glu571Asp |
| XM_011535382.1:c.1632A>T | XP_011533684.1:p.Glu544Asp |