Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308195C>A , CM000685.2:g.30308195C>A | GRCh38 |
| NC_000023.10:g.30326312C>A , CM000685.1:g.30326312C>A | GRCh37 |
| NC_000023.9:g.30236233C>A | NCBI36 |
| NG_009814.1:g.6184G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000475.5:c.1168+1G>T MANE Select | NP_000466.2:n.1168+1G>T |
| ENST00000378970.5:c.1168+1G>T MANE Select | ENSP00000368253.4:n.1168+1G>T |
| NM_000475.4:c.1168+1G>T | NP_000466.2:n.1168+1G>T |
| ENST00000378963.1:c.283+1G>T | ENSP00000368246.1:n.283+1G>T |
| ENST00000378970.4:c.1168+1G>T | ENSP00000368253.4:n.1168+1G>T |