Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128286711C>G , CM000667.2:g.128286711C>G | GRCh38 |
| NC_000005.9:g.127622403C>G , CM000667.1:g.127622403C>G | GRCh37 |
| NC_000005.8:g.127650302C>G | NCBI36 |
| NG_008750.1:g.256333G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.7012+7G>C MANE Select | NP_001990.2:n.7012+7G>C |
| ENST00000262464.9:c.7012+7G>C MANE Select | ENSP00000262464.4:n.7012+7G>C |
| NM_001999.3:c.7012+7G>C | NP_001990.2:n.7012+7G>C |
| ENST00000262464.8:c.7012+7G>C | ENSP00000262464.4:n.7012+7G>C |
| ENST00000508053.5:c.7012+7G>C | ENSP00000424571.1:n.7012+7G>C |
| ENST00000619499.4:c.7009+7G>C | ENSP00000482132.1:n.7009+7G>C |
| ENST00000703783.1:n.3796+7G>C | |
| XM_017009228.2:c.6859+7G>C | XP_016864717.1:n.6859+7G>C |