Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42704546G>A , CM000668.2:g.42704546G>A | GRCh38 |
| NC_000006.11:g.42672284G>A , CM000668.1:g.42672284G>A | GRCh37 |
| NC_000006.10:g.42780262G>A | NCBI36 |
| NG_009176.1:g.23075C>T | |
| NG_009176.2:g.23075C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.647C>T MANE Select | NP_000313.2:p.Pro216Leu |
| ENST00000230381.7:c.647C>T MANE Select | ENSP00000230381.5:p.Pro216Leu |
| NM_000322.4:c.647C>T | NP_000313.2:p.Pro216Leu |
| ENST00000230381.6:c.647C>T | ENSP00000230381.5:p.Pro216Leu |
| XR_427834.2:n.1302C>T | |
| XR_427834.4:n.1352C>T | |
| XR_926295.1:n.1484C>T | |
| XR_926295.3:n.1534C>T |