Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20005683G>C , CM000664.2:g.20005683G>C | GRCh38 |
| NC_000002.11:g.20205444G>C , CM000664.1:g.20205444G>C | GRCh37 |
| NC_000002.10:g.20068925G>C | NCBI36 |
| NG_008087.1:g.12012C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407540.8:c.790+61C>G MANE Select | ENSP00000383894.3:n.790+61C>G | |
| ENST00000407540.7:c.790+61C>G | ENSP00000383894.3:n.790+61C>G | |
| ENST00000421259.2:c.790+61C>G | ENSP00000398753.2:n.790+61C>G | |
| NM_002381.4:c.790+61C>G | NP_002372.1:n.790+61C>G | |
| NM_002381.5:c.790+61C>G MANE Select | NP_002372.1:n.790+61C>G |