Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270730C>G , CM000668.2:g.31270730C>G | GRCh38 |
| NC_000006.11:g.31238507C>G , CM000668.1:g.31238507C>G | GRCh37 |
| NC_000006.10:g.31346486C>G | NCBI36 |
| NG_029422.2:g.6402G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.620-245G>C MANE Select | ENSP00000365402.5:n.620-245G>C | |
| ENST00000376228.9:c.620-245G>C | ENSP00000365402.5:n.620-245G>C | |
| ENST00000376237.8:c.*207-245G>C | ENSP00000365412.4:n.*207-245G>C | |
| ENST00000383329.7:c.620-245G>C | ENSP00000372819.3:n.620-245G>C | |
| ENST00000415537.1:c.618-245G>C | ||
| ENST00000487245.5:n.979-245G>C | ||
| ENST00000495835.1:n.809-245G>C | ||
| NM_002117.5:c.620-245G>C | NP_002108.4:n.620-245G>C | |
| NM_002117.6:c.620-245G>C MANE Select | NP_002108.4:n.620-245G>C |