Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227616703C= , CM000664.2:g.227616703C= | GRCh38 |
| NC_000002.11:g.228481419C= , CM000664.1:g.228481419C= | GRCh37 |
| NC_000002.10:g.228189663C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264387.8:c.191-5047G= | ENSP00000264387.4:n.191-5047G= | |
| ENST00000409066.1:c.191-3669G= | ENSP00000387149.1:n.191-3669G= | |
| NM_001162483.1:c.191-3669G= | NP_001155955.1:n.191-3669G= | |
| NM_020161.3:c.191-5047G= | NP_064546.3:n.191-5047G= | |
| NM_001162483.2:c.191-3669G= | NP_001155955.1:n.191-3669G= | |
| NM_020161.4:c.191-5047G= | NP_064546.3:n.191-5047G= | |
| NR_172911.1:n.426-3669G= | ||
| NR_172912.1:n.426-5047G= |