Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150106209A= , CM000667.2:g.150106209A= | GRCh38 |
| NC_000005.9:g.149485772A= , CM000667.1:g.149485772A= | GRCh37 |
| NC_000005.8:g.149465965A= | NCBI36 |
| NG_012303.1:g.12164T= | |
| NG_012303.2:g.12164T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001375320.1:c.-286+7052T= | NP_001362249.1:n.-286+7052T= |
| NM_001375321.1:c.-396+7052T= | NP_001362250.1:n.-396+7052T= |
| NM_005211.3:c.-181+7052T= | NP_005202.2:n.-181+7052T= |
| NM_005211.4:c.-181+7052T= | NP_005202.2:n.-181+7052T= |
| NR_164679.1:n.105+7052T= | |
| ENST00000286301.7:c.-181+7052T= | ENSP00000286301.3:n.-181+7052T= |
| ENST00000511344.1:c.-396+7052T= | ENSP00000421174.1:n.-396+7052T= |