Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8534047G>A , CM000685.2:g.8534047G>A | GRCh38 |
| NC_000023.10:g.8502088G>A , CM000685.1:g.8502088G>A | GRCh37 |
| NC_000023.9:g.8462088G>A | NCBI36 |
| NG_007088.1:g.203140C>T | |
| NG_007088.2:g.203140C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000216.4:c.1984+272C>T MANE Select | NP_000207.2:n.1984+272C>T |
| ENST00000262648.8:c.1984+272C>T MANE Select | ENSP00000262648.3:n.1984+272C>T |
| NM_000216.2:c.1984+272C>T | NP_000207.2:n.1984+272C>T |
| NM_000216.3:c.1984+272C>T | NP_000207.2:n.1984+272C>T |
| ENST00000262648.7:c.1984+272C>T | ENSP00000262648.3:n.1984+272C>T |
| ENST00000619786.1:c.1981+272C>T | ENSP00000478734.1:n.1981+272C>T |