Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31591801G>T , CM000680.2:g.31591801G>T | GRCh38 |
| NC_000018.9:g.29171764G>T , CM000680.1:g.29171764G>T | GRCh37 |
| NC_000018.8:g.27425762G>T | NCBI36 |
| NG_009490.1:g.5035G>T , LRG_416:g.5035G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000371.3:c.-102G>T , LRG_416t1:c.-102G>T | NP_000362.1:n.-102G>T |
| ENST00000237014.7:c.-102G>T | ENSP00000237014.3:n.-102G>T |
| ENST00000610404.4:c.-102G>T | ENSP00000477599.1:n.-102G>T |
| ENST00000610404.5:c.-27-1095G>T | ENSP00000477599.2:n.-27-1095G>T |
| ENST00000613781.1:c.-102G>T | ENSP00000479174.1:n.-102G>T |
| ENST00000613781.2:c.-1-101G>T | ENSP00000479174.2:n.-1-101G>T |
| ENST00000649620.1:c.-1-101G>T | ENSP00000497927.1:n.-1-101G>T |
| ENST00000676075.1:c.-1-101G>T | ENSP00000502027.1:n.-1-101G>T |