Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28329780C>T , CM000675.2:g.28329780C>T | GRCh38 |
| NC_000013.10:g.28903917C>T , CM000675.1:g.28903917C>T | GRCh37 |
| NC_000013.9:g.27801917C>T | NCBI36 |
| NG_012003.1:g.170349G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002019.4:c.2594-52G>A MANE Select | NP_002010.2:n.2594-52G>A |
| ENST00000282397.9:c.2594-52G>A MANE Select | ENSP00000282397.4:n.2594-52G>A |
| ENST00000282397.8:c.2594-52G>A | ENSP00000282397.4:n.2594-52G>A |
| ENST00000540678.2:c.-1166-52G>A | ENSP00000443311.2:n.-1166-52G>A |
| ENST00000706527.1:n.419-52G>A | |
| XM_017020485.1:c.2594-2230G>A | XP_016875974.1:n.2594-2230G>A |