Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189098719C>G , CM000664.2:g.189098719C>G | GRCh38 |
| NC_000002.11:g.189963445C>G , CM000664.1:g.189963445C>G | GRCh37 |
| NC_000002.10:g.189671690C>G | NCBI36 |
| NG_011799.1:g.86161G>C | |
| NG_011799.2:g.86161G>C | |
| NG_011799.3:g.131583G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.402+8G>C MANE Select | ENSP00000364000.3:n.402+8G>C | |
| ENST00000649966.1:c.264+8G>C | ENSP00000496785.1:n.264+8G>C | |
| ENST00000374866.7:c.402+8G>C | ENSP00000364000.3:n.402+8G>C | |
| ENST00000618828.1:c.-229+8G>C | ENSP00000482184.1:n.-229+8G>C | |
| NM_000393.3:c.402+8G>C | NP_000384.2:n.402+8G>C | |
| XM_011510573.1:c.264+8G>C | XP_011508875.1:n.264+8G>C | |
| NM_000393.4:c.402+8G>C | NP_000384.2:n.402+8G>C | |
| XM_011510573.3:c.264+8G>C | XP_011508875.1:n.264+8G>C | |
| NM_000393.5:c.402+8G>C MANE Select | NP_000384.2:n.402+8G>C |