Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.23334893G>A , CM000685.2:g.23334893G>A | GRCh38 |
| NC_000023.10:g.23353010G>A , CM000685.1:g.23353010G>A | GRCh37 |
| NC_000023.9:g.23262931G>A | NCBI36 |
| NG_021300.1:g.5026G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379361.5:c.18G>A MANE Select | ENSP00000368666.4:p.Leu6= | |
| ENST00000379361.4:c.18G>A | ENSP00000368666.4:p.Leu6= | |
| ENST00000616022.1:c.-123-175G>A | ENSP00000478663.1:n.-123-175G>A | |
| NM_173495.2:c.18G>A | NP_775766.2:p.Leu6= | |
| XM_011545449.1:c.18G>A | XP_011543751.1:p.Leu6= | |
| XM_011545449.3:c.18G>A | XP_011543751.1:p.Leu6= | |
| NM_173495.3:c.18G>A MANE Select | NP_775766.2:p.Leu6= |