Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42704461G>T , CM000668.2:g.42704461G>T | GRCh38 |
| NC_000006.11:g.42672199G>T , CM000668.1:g.42672199G>T | GRCh37 |
| NC_000006.10:g.42780177G>T | NCBI36 |
| NG_009176.1:g.23160C>A | |
| NG_009176.2:g.23160C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.732C>A MANE Select | ENSP00000230381.5:p.Asn244Lys | |
| ENST00000230381.6:c.732C>A | ENSP00000230381.5:p.Asn244Lys | |
| NM_000322.4:c.732C>A | NP_000313.2:p.Asn244Lys | |
| XR_427834.2:n.1387C>A | ||
| XR_427834.4:n.1437C>A | ||
| XR_926295.3:n.1619C>A | ||
| NM_000322.5:c.732C>A MANE Select | NP_000313.2:p.Asn244Lys |