Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89218563A>G , CM000677.2:g.89218563A>G | GRCh38 |
| NC_000015.9:g.89761794A>G , CM000677.1:g.89761794A>G | GRCh37 |
| NC_000015.8:g.87562798A>G | NCBI36 |
| NG_008116.1:g.8129T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000326.5:c.141+2T>C MANE Select | NP_000317.1:n.141+2T>C |
| ENST00000268125.10:c.141+2T>C MANE Select | ENSP00000268125.5:n.141+2T>C |
| NM_000326.4:c.141+2T>C | NP_000317.1:n.141+2T>C |
| ENST00000268125.9:c.141+2T>C | ENSP00000268125.5:n.141+2T>C |
| ENST00000567787.1:c.141+2T>C | ENSP00000457251.1:n.141+2T>C |
| XM_011521870.1:c.141+2T>C | XP_011520172.1:n.141+2T>C |
| XM_011521870.2:c.141+2T>C | XP_011520172.1:n.141+2T>C |
| XM_011521872.1:c.-178+2T>C | XP_011520174.1:n.-178+2T>C |
| XM_017022460.1:c.168+2T>C | XP_016877949.1:n.168+2T>C |