Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153690508T>G , CM000685.2:g.153690508T>G | GRCh38 |
| NC_000023.10:g.152955963T>G , CM000685.1:g.152955963T>G | GRCh37 |
| NC_000023.9:g.152609157T>G | NCBI36 |
| NG_012016.1:g.7212T>G | |
| NG_012016.2:g.7212T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005629.4:c.394+2T>G MANE Select | NP_005620.1:n.394+2T>G |
| ENST00000253122.10:c.394+2T>G MANE Select | ENSP00000253122.5:n.394+2T>G |
| NM_001142805.1:c.394+2T>G | NP_001136277.1:n.394+2T>G |
| NM_001142805.2:c.394+2T>G | NP_001136277.1:n.394+2T>G |
| NM_001142806.1:c.49+2T>G | NP_001136278.1:n.49+2T>G |
| NM_005629.3:c.394+2T>G | NP_005620.1:n.394+2T>G |
| ENST00000253122.9:c.394+2T>G | ENSP00000253122.5:n.394+2T>G |
| ENST00000430077.6:c.49+2T>G | ENSP00000403041.2:n.49+2T>G |
| ENST00000476466.1:n.248T>G | |
| ENST00000675713.1:n.148+2T>G |