Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136676681C>G , CM000671.2:g.136676681C>G | GRCh38 |
| NC_000009.11:g.139571133C>G , CM000671.1:g.139571133C>G | GRCh37 |
| NC_000009.10:g.138690954C>G | NCBI36 |
| NG_008090.1:g.15779G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006412.4:c.493-1G>C MANE Select | NP_006403.2:n.493-1G>C |
| ENST00000371696.7:c.493-1G>C MANE Select | ENSP00000360761.2:n.493-1G>C |
| NM_001012727.1:c.492+280G>C | NP_001012745.1:n.492+280G>C |
| NM_001012727.2:c.492+280G>C | NP_001012745.1:n.492+280G>C |
| NM_006412.3:c.493-1G>C | NP_006403.2:n.493-1G>C |
| ENST00000371694.7:c.492+280G>C | ENSP00000360759.3:n.492+280G>C |
| ENST00000371696.6:c.493-1G>C | ENSP00000360761.2:n.493-1G>C |
| ENST00000472820.1:n.421-1G>C | |
| ENST00000538402.1:c.493-1G>C | ENSP00000438919.1:n.493-1G>C |