Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4636097C>G , CM000679.2:g.4636097C>G | GRCh38 |
| NC_000017.10:g.4539392C>G , CM000679.1:g.4539392C>G | GRCh37 |
| NC_000017.9:g.4486141C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.952-129G>C MANE Select | ENSP00000293761.3:n.952-129G>C | |
| ENST00000570836.6:c.952-129G>C | ENSP00000458832.1:n.952-129G>C | |
| ENST00000293761.7:c.952-129G>C | ENSP00000293761.3:n.952-129G>C | |
| ENST00000570836.5:c.952-129G>C | ENSP00000458832.1:n.952-129G>C | |
| ENST00000574640.1:c.835-129G>C | ENSP00000460483.1:n.835-129G>C | |
| NM_001140.3:c.952-129G>C | NP_001131.3:n.952-129G>C | |
| NM_001140.4:c.952-129G>C | NP_001131.3:n.952-129G>C | |
| NM_001140.5:c.952-129G>C MANE Select | NP_001131.3:n.952-129G>C |