Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29481146G>C , CM000684.2:g.29481146G>C | GRCh38 |
| NC_000022.10:g.29877135G>C , CM000684.1:g.29877135G>C | GRCh37 |
| NC_000022.9:g.28207135G>C | NCBI36 |
| NG_008404.1:g.5955G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021076.4:c.883+1G>C MANE Select | NP_066554.2:n.883+1G>C |
| ENST00000310624.7:c.883+1G>C MANE Select | ENSP00000311997.6:n.883+1G>C |
| NM_021076.3:c.883+1G>C | NP_066554.2:n.883+1G>C |
| ENST00000310624.6:c.883+1G>C | ENSP00000311997.6:n.883+1G>C |
| XM_011530200.1:c.883+1G>C | XP_011528502.1:n.883+1G>C |
| XM_011530200.2:c.883+1G>C | XP_011528502.1:n.883+1G>C |