Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77517923C>G , CM000676.2:g.77517923C>G | GRCh38 |
| NC_000014.8:g.77984266C>G , CM000676.1:g.77984266C>G | GRCh37 |
| NC_000014.7:g.77054019C>G | NCBI36 |
| NG_028282.1:g.103845G>C , LRG_371:g.103845G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686627.1:n.601+115G>C | ||
| ENST00000687688.1:n.1332+115G>C | ||
| ENST00000692906.1:n.1301+115G>C | ||
| ENST00000216484.7:c.1569+115G>C MANE Select | ENSP00000216484.2:n.1569+115G>C | |
| ENST00000216484.6:c.1569+115G>C | ENSP00000216484.2:n.1569+115G>C | |
| ENST00000556607.1:c.397+115G>C | ENSP00000451029.1:n.397+115G>C | |
| NM_004863.3:c.1569+115G>C , LRG_371t1:c.1569+115G>C | NP_004854.1:n.1569+115G>C | |
| NM_004863.4:c.1569+115G>C MANE Select | NP_004854.1:n.1569+115G>C |