Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940729T>A , CM000678.2:g.67940729T>A | GRCh38 |
| NC_000016.9:g.67974632T>A , CM000678.1:g.67974632T>A | GRCh37 |
| NC_000016.8:g.66532133T>A | NCBI36 |
| NG_009778.1:g.8384A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.749-251A>T MANE Select | ENSP00000264005.5:n.749-251A>T | |
| ENST00000264005.9:c.749-251A>T | ENSP00000264005.5:n.749-251A>T | |
| ENST00000570369.5:c.156-655A>T | ||
| ENST00000570980.1:c.533-251A>T | ENSP00000464651.1:n.533-251A>T | |
| ENST00000573538.5:c.486+8A>T | ENSP00000463220.1:n.486+8A>T | |
| NM_000229.1:c.749-251A>T | NP_000220.1:n.749-251A>T | |
| NM_000229.2:c.749-251A>T MANE Select | NP_000220.1:n.749-251A>T |