Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957833G>A , CM000669.2:g.142957833G>A | GRCh38 |
| NC_000007.13:g.142654920G>A , CM000669.1:g.142654920G>A | GRCh37 |
| NC_000007.12:g.142365042G>A | NCBI36 |
| NG_007492.1:g.9584C>T | |
| NG_007492.2:g.9584C>T | |
| NG_007492.3:g.9584C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.666C>T MANE Select | ENSP00000347409.2:p.Val222= | |
| ENST00000467543.6:c.*518C>T | ENSP00000420011.2:n.*518C>T | |
| ENST00000355265.6:c.666C>T | ENSP00000347409.2:p.Val222= | |
| ENST00000467543.5:c.609C>T | ENSP00000420011.1:p.Val203= | |
| ENST00000476829.5:c.525+471C>T | ENSP00000419889.1:n.525+471C>T | |
| ENST00000479768.6:n.784C>T | ||
| ENST00000494148.1:n.265C>T | ||
| NM_000420.2:c.666C>T | NP_000411.1:p.Val222= | |
| XM_005249993.2:c.702C>T | XP_005250050.1:p.Val234= | |
| NM_000420.3:c.666C>T MANE Select | NP_000411.1:p.Val222= |