Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6181849C>T , CM000668.2:g.6181849C>T | GRCh38 |
| NC_000006.11:g.6182082C>T , CM000668.1:g.6182082C>T | GRCh37 |
| NC_000006.10:g.6127081C>T | NCBI36 |
| NG_008107.1:g.143843G>A , LRG_549:g.143843G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000129.4:c.1459+139G>A MANE Select | NP_000120.2:n.1459+139G>A |
| ENST00000264870.8:c.1459+139G>A MANE Select | ENSP00000264870.3:n.1459+139G>A |
| NM_000129.3:c.1459+139G>A , LRG_549t1:c.1459+139G>A | NP_000120.2:n.1459+139G>A |
| ENST00000264870.7:c.1459+139G>A | ENSP00000264870.3:n.1459+139G>A |
| XM_006715010.2:c.1459+139G>A | XP_006715073.1:n.1459+139G>A |
| XM_011514342.1:c.1621+139G>A | XP_011512644.1:n.1621+139G>A |