Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721989C>A , CM000668.2:g.42721989C>A | GRCh38 |
| NC_000006.11:g.42689727C>A , CM000668.1:g.42689727C>A | GRCh37 |
| NC_000006.10:g.42797705C>A | NCBI36 |
| NG_009176.1:g.5632G>T | |
| NG_009176.2:g.5632G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.346G>T MANE Select | NP_000313.2:p.Ala116Ser |
| ENST00000230381.7:c.346G>T MANE Select | ENSP00000230381.5:p.Ala116Ser |
| NM_000322.4:c.346G>T | NP_000313.2:p.Ala116Ser |
| ENST00000230381.6:c.346G>T | ENSP00000230381.5:p.Ala116Ser |
| XR_427834.2:n.1001G>T | |
| XR_427834.4:n.1051G>T | |
| XR_926295.1:n.1001G>T | |
| XR_926295.3:n.1051G>T |