Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240872977A>T , CM000664.2:g.240872977A>T | GRCh38 |
| NC_000002.11:g.241812394A>T , CM000664.1:g.241812394A>T | GRCh37 |
| NC_000002.10:g.241461067A>T | NCBI36 |
| NG_008005.1:g.9233A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.525-2A>T MANE Select | NP_000021.1:n.525-2A>T |
| ENST00000307503.4:c.525-2A>T MANE Select | ENSP00000302620.3:n.525-2A>T |
| NM_000030.2:c.525-2A>T | NP_000021.1:n.525-2A>T |
| ENST00000307503.3:c.525-2A>T | ENSP00000302620.3:n.525-2A>T |
| ENST00000472436.1:n.545-2A>T | |
| ENST00000476698.1:n.262-2A>T |