Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189058822A>G , CM000664.2:g.189058822A>G | GRCh38 |
| NC_000002.11:g.189923548A>G , CM000664.1:g.189923548A>G | GRCh37 |
| NC_000002.10:g.189631793A>G | NCBI36 |
| NG_011799.1:g.126058T>C | |
| NG_011799.2:g.126058T>C | |
| NG_011799.3:g.171480T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2130+27T>C MANE Select | ENSP00000364000.3:n.2130+27T>C | |
| ENST00000374866.7:c.2130+27T>C | ENSP00000364000.3:n.2130+27T>C | |
| ENST00000470524.2:n.236+27T>C | ||
| ENST00000618828.1:c.969+27T>C | ENSP00000482184.1:n.969+27T>C | |
| NM_000393.3:c.2130+27T>C | NP_000384.2:n.2130+27T>C | |
| XM_011510573.1:c.1992+27T>C | XP_011508875.1:n.1992+27T>C | |
| NM_000393.4:c.2130+27T>C | NP_000384.2:n.2130+27T>C | |
| XM_011510573.3:c.1992+27T>C | XP_011508875.1:n.1992+27T>C | |
| NM_000393.5:c.2130+27T>C MANE Select | NP_000384.2:n.2130+27T>C |