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