Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116170939G>T , CM000685.2:g.116170939G>T | GRCh38 |
| NC_000023.10:g.115302192G>T , CM000685.1:g.115302192G>T | GRCh37 |
| NC_000023.9:g.115216220G>T | NCBI36 |
| NG_016326.1:g.5235G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000686.5:c.-95-29G>T MANE Select | NP_000677.2:n.-95-29G>T |
| ENST00000371906.5:c.-95-29G>T MANE Select | ENSP00000360973.4:n.-95-29G>T |
| NM_000686.4:c.-95-29G>T | NP_000677.2:n.-95-29G>T |
| NM_001385624.1:c.-36+123G>T | NP_001372553.1:n.-36+123G>T |
| ENST00000371906.4:c.-95-29G>T | ENSP00000360973.4:n.-95-29G>T |
| ENST00000681852.1:c.-36+123G>T | ENSP00000505750.1:n.-36+123G>T |
| XM_011537533.1:c.-36+123G>T | XP_011535835.1:n.-36+123G>T |