Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42704612C>T , CM000668.2:g.42704612C>T | GRCh38 |
| NC_000006.11:g.42672350C>T , CM000668.1:g.42672350C>T | GRCh37 |
| NC_000006.10:g.42780328C>T | NCBI36 |
| NG_009176.1:g.23009G>A | |
| NG_009176.2:g.23009G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.582-1G>A MANE Select | NP_000313.2:n.582-1G>A |
| ENST00000230381.7:c.582-1G>A MANE Select | ENSP00000230381.5:n.582-1G>A |
| NM_000322.4:c.582-1G>A | NP_000313.2:n.582-1G>A |
| ENST00000230381.6:c.582-1G>A | ENSP00000230381.5:n.582-1G>A |
| XR_427834.2:n.1237-1G>A | |
| XR_427834.4:n.1287-1G>A | |
| XR_926295.1:n.1419-1G>A | |
| XR_926295.3:n.1469-1G>A |