Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125267G>T , CM000666.2:g.55125267G>T | GRCh38 |
| NC_000004.11:g.55991434G>T , CM000666.1:g.55991434G>T | GRCh37 |
| NC_000004.10:g.55686191G>T | NCBI36 |
| NG_012004.1:g.5329C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.27C>A MANE Select | ENSP00000263923.4:p.Val9= | |
| ENST00000263923.4:c.27C>A | ENSP00000263923.4:p.Val9= | |
| ENST00000512566.1:n.27C>A | ||
| NM_002253.2:c.27C>A | NP_002244.1:p.Val9= | |
| NM_002253.3:c.27C>A | NP_002244.1:p.Val9= | |
| NM_002253.4:c.27C>A MANE Select | NP_002244.1:p.Val9= |