Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320299A>C , CM000667.2:g.159320299A>C | GRCh38 |
| NC_000005.9:g.158747307A>C , CM000667.1:g.158747307A>C | GRCh37 |
| NC_000005.8:g.158679885A>C | NCBI36 |
| NG_009618.1:g.15175T>G , LRG_71:g.15175T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.67+7T>G | ENSP00000512849.1:n.67+7T>G | |
| ENST00000696751.1:c.*192+7T>G | ENSP00000512850.1:n.*192+7T>G | |
| ENST00000231228.3:c.697+7T>G MANE Select | ENSP00000231228.2:n.697+7T>G | |
| ENST00000231228.2:c.697+7T>G | ENSP00000231228.2:n.697+7T>G | |
| NM_002187.2:c.697+7T>G , LRG_71t1:c.697+7T>G | NP_002178.2:n.697+7T>G | |
| NM_002187.3:c.697+7T>G MANE Select | NP_002178.2:n.697+7T>G |