Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123278360A>C , CM000668.2:g.123278360A>C | GRCh38 |
| NC_000006.11:g.123599505A>C , CM000668.1:g.123599505A>C | GRCh37 |
| NC_000006.10:g.123641204A>C | NCBI36 |
| NG_030438.1:g.363734T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334268.9:c.1538-13T>G MANE Select | ENSP00000333984.5:n.1538-13T>G | |
| ENST00000334268.8:c.1538-13T>G | ENSP00000333984.5:n.1538-13T>G | |
| NM_006073.3:c.1538-13T>G | NP_006064.2:n.1538-13T>G | |
| XM_011535382.1:c.1484-13T>G | XP_011533684.1:n.1484-13T>G | |
| NM_006073.4:c.1538-13T>G MANE Select | NP_006064.2:n.1538-13T>G |