Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176119423T>C , CM000664.2:g.176119423T>C | GRCh38 |
| NC_000002.11:g.176984151T>C , CM000664.1:g.176984151T>C | GRCh37 |
| NC_000002.10:g.176692397T>C | NCBI36 |
| NG_008133.2:g.12660T>C , LRG_246:g.12660T>C | |
| NG_009225.1:g.1739T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249501.5:c.*192T>C MANE Select | ENSP00000249501.4:n.*192T>C | |
| ENST00000249501.4:c.*192T>C | ENSP00000249501.4:n.*192T>C | |
| NM_002148.3:c.*192T>C , LRG_246t1:c.*192T>C | NP_002139.2:n.*192T>C | |
| NM_002148.4:c.*192T>C MANE Select | NP_002139.2:n.*192T>C |