Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56453715T>G , CM000674.2:g.56453715T>G | GRCh38 |
| NC_000012.11:g.56847499T>G , CM000674.1:g.56847499T>G | GRCh37 |
| NC_000012.10:g.55133766T>G | NCBI36 |
| NG_021397.1:g.5937A>C | |
| NG_021397.2:g.20452A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648304.1:c.*25A>C | ENSP00000497190.1:n.*25A>C | |
| ENST00000648442.1:n.534A>C | ||
| ENST00000650166.1:n.290A>C | ||
| ENST00000652304.1:c.401A>C MANE Select | ENSP00000498622.1:p.Glu134Ala | |
| ENST00000257979.4:c.401A>C | ENSP00000257979.4:p.Glu134Ala | |
| ENST00000555551.1:n.357A>C | ||
| NM_012064.3:c.401A>C | NP_036196.1:p.Glu134Ala | |
| XM_011538354.1:c.116A>C | XP_011536656.1:p.Glu39Ala | |
| NM_012064.4:c.401A>C MANE Select | NP_036196.1:p.Glu134Ala | |
| XM_017019306.1:c.44A>C | XP_016874795.1:p.Glu15Ala |