Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42704448C>T , CM000668.2:g.42704448C>T | GRCh38 |
| NC_000006.11:g.42672186C>T , CM000668.1:g.42672186C>T | GRCh37 |
| NC_000006.10:g.42780164C>T | NCBI36 |
| NG_009176.1:g.23173G>A | |
| NG_009176.2:g.23173G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.745G>A MANE Select | NP_000313.2:p.Gly249Ser |
| ENST00000230381.7:c.745G>A MANE Select | ENSP00000230381.5:p.Gly249Ser |
| NM_000322.4:c.745G>A | NP_000313.2:p.Gly249Ser |
| ENST00000230381.6:c.745G>A | ENSP00000230381.5:p.Gly249Ser |
| XR_427834.2:n.1400G>A | |
| XR_427834.4:n.1450G>A | |
| XR_926295.3:n.1632G>A |