Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112086739C>T , CM000673.2:g.112086739C>T | GRCh38 |
| NC_000011.9:g.111957463C>T , CM000673.1:g.111957463C>T | GRCh37 |
| NC_000011.8:g.111462673C>T | NCBI36 |
| NG_012337.2:g.4893C>T | |
| NG_033145.1:g.5060G>A | |
| NG_012337.3:g.4893C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504148.3:c.-16G>A MANE Select | ENSP00000422122.2:n.-16G>A | |
| ENST00000504148.2:c.-16G>A | ENSP00000422122.2:n.-16G>A | |
| ENST00000509359.6:c.-16G>A | ENSP00000421964.2:n.-16G>A | |
| ENST00000541231.1:c.30G>A | ENSP00000438455.1:p.Ala10= | |
| NM_012459.2:c.30G>A | NP_036591.2:p.Ala10= | |
| NR_028383.1:n.60G>A | ||
| NM_012459.3:c.-16G>A | NP_036591.3:n.-16G>A | |
| NR_028383.2:n.18G>A | ||
| NR_160400.1:n.18G>A | ||
| NM_012459.4:c.-16G>A MANE Select | NP_036591.3:n.-16G>A |