Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269991A>C , CM000668.2:g.31269991A>C | GRCh38 |
| NC_000006.11:g.31237768A>C , CM000668.1:g.31237768A>C | GRCh37 |
| NC_000006.10:g.31345747A>C | NCBI36 |
| NG_029422.2:g.7141T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.990T>G MANE Select | ENSP00000365402.5:p.Ala330= | |
| ENST00000376228.9:c.990T>G | ENSP00000365402.5:p.Ala330= | |
| ENST00000376237.8:c.*577T>G | ENSP00000365412.4:n.*577T>G | |
| ENST00000383329.7:c.990T>G | ENSP00000372819.3:p.Ala330= | |
| ENST00000470363.5:n.308T>G | ||
| ENST00000487245.5:n.1349T>G | ||
| NM_002117.5:c.990T>G | NP_002108.4:p.Ala330= | |
| NM_002117.6:c.990T>G MANE Select | NP_002108.4:p.Ala330= |