Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24347931A>C , CM000668.2:g.24347931A>C | GRCh38 |
| NC_000006.11:g.24348159A>C , CM000668.1:g.24348159A>C | GRCh37 |
| NC_000006.10:g.24456138A>C | NCBI36 |
| NG_012829.1:g.15122T>G | |
| NG_012829.2:g.40362T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378454.8:c.348+5638T>G MANE Select | ENSP00000367715.3:n.348+5638T>G | |
| ENST00000378454.7:c.348+5638T>G | ENSP00000367715.3:n.348+5638T>G | |
| NM_001195610.1:c.348+5638T>G | NP_001182539.1:n.348+5638T>G | |
| NM_016356.4:c.348+5638T>G | NP_057440.2:n.348+5638T>G | |
| NM_016356.5:c.348+5638T>G MANE Select | NP_057440.2:n.348+5638T>G | |
| NM_001195610.2:c.348+5638T>G | NP_001182539.1:n.348+5638T>G |