Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48755765A>T , CM000664.2:g.48755765A>T | GRCh38 |
| NC_000002.11:g.48982904A>T , CM000664.1:g.48982904A>T | GRCh37 |
| NC_000002.10:g.48836408A>T | NCBI36 |
| NG_008193.1:g.4977T>A | |
| NG_033050.1:g.230841A>T | |
| NG_008193.2:g.4977T>A | |
| NG_033050.2:g.230841A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402114.6:c.3442-20515A>T | ENSP00000385701.1:n.3442-20515A>T | |
| NM_001198593.1:c.3442-20515A>T | NP_001185522.1:n.3442-20515A>T | |
| NM_001198593.2:c.3442-20515A>T | NP_001185522.1:n.3442-20515A>T |