Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154653506C>T , CM000685.2:g.154653506C>T | GRCh38 |
| NC_000023.10:g.153881780C>T , CM000685.1:g.153881780C>T | GRCh37 |
| NC_000023.9:g.153534974C>T | NCBI36 |
| NG_021275.2:g.5074G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_172377.5:c.10G>A MANE Select | NP_758965.2:p.Glu4Lys |
| ENST00000369585.4:c.10G>A MANE Select | ENSP00000358598.3:p.Glu4Lys |
| NM_020994.4:c.10G>A | NP_066274.2:p.Glu4Lys |
| NM_020994.5:c.10G>A | NP_066274.2:p.Glu4Lys |
| NM_172377.4:c.10G>A | NP_758965.2:p.Glu4Lys |
| ENST00000247306.4:c.10G>A | ENSP00000247306.4:p.Glu4Lys |
| ENST00000369585.3:c.10G>A | ENSP00000358598.3:p.Glu4Lys |