Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123218636C>A , CM000668.2:g.123218636C>A | GRCh38 |
| NC_000006.11:g.123539781C>A , CM000668.1:g.123539781C>A | GRCh37 |
| NC_000006.10:g.123581480C>A | NCBI36 |
| NG_030438.1:g.423458G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334268.9:c.2155G>T MANE Select | ENSP00000333984.5:p.Ala719Ser | |
| ENST00000334268.8:c.2155G>T | ENSP00000333984.5:p.Ala719Ser | |
| NM_006073.3:c.2155G>T | NP_006064.2:p.Ala719Ser | |
| XM_011535382.1:c.2074G>T | XP_011533684.1:p.Ala692Ser | |
| NM_006073.4:c.2155G>T MANE Select | NP_006064.2:p.Ala719Ser |