Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14769206A>G , CM000667.2:g.14769206A>G | GRCh38 |
| NC_000005.9:g.14769315A>G , CM000667.1:g.14769315A>G | GRCh37 |
| NC_000005.8:g.14822315A>G | NCBI36 |
| NG_008273.1:g.107573T>C | |
| NG_008273.2:g.107580T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.97-15T>C MANE Select | ENSP00000284268.6:n.97-15T>C | |
| ENST00000284268.6:c.97-15T>C | ENSP00000284268.6:n.97-15T>C | |
| ENST00000503389.1:n.103-15T>C | ||
| ENST00000513115.1:n.122-15T>C | ||
| NM_054027.4:c.97-15T>C | NP_473368.1:n.97-15T>C | |
| XM_011514067.1:c.97-15T>C | XP_011512369.1:n.97-15T>C | |
| NM_054027.5:c.97-15T>C | NP_473368.1:n.97-15T>C | |
| XM_017009644.2:c.13-15T>C | XP_016865133.1:n.13-15T>C | |
| NM_054027.6:c.97-15T>C MANE Select | NP_473368.1:n.97-15T>C |