Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271003C>A , CM000668.2:g.31271003C>A | GRCh38 |
| NC_000006.11:g.31238780C>A , CM000668.1:g.31238780C>A | GRCh37 |
| NC_000006.10:g.31346759C>A | NCBI36 |
| NG_029422.2:g.6129G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.619+70G>T MANE Select | ENSP00000365402.5:n.619+70G>T | |
| ENST00000376228.9:c.619+70G>T | ENSP00000365402.5:n.619+70G>T | |
| ENST00000376237.8:c.*206+70G>T | ENSP00000365412.4:n.*206+70G>T | |
| ENST00000383329.7:c.619+70G>T | ENSP00000372819.3:n.619+70G>T | |
| ENST00000415537.1:c.617+70G>T | ||
| ENST00000487245.5:n.978+70G>T | ||
| ENST00000495835.1:n.808+70G>T | ||
| NM_002117.5:c.619+70G>T | NP_002108.4:n.619+70G>T | |
| NM_002117.6:c.619+70G>T MANE Select | NP_002108.4:n.619+70G>T |