Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21561171G>C , CM000669.2:g.21561171G>C | GRCh38 |
| NC_000007.13:g.21600789G>C , CM000669.1:g.21600789G>C | GRCh37 |
| NC_000007.12:g.21567314G>C | NCBI36 |
| NG_012886.2:g.22957G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.982+1G>C MANE Select | NP_001264044.1:n.982+1G>C |
| ENST00000409508.8:c.982+1G>C MANE Select | ENSP00000475939.1:n.982+1G>C |
| NM_001277115.1:c.982+1G>C | NP_001264044.1:n.982+1G>C |
| ENST00000328843.10:c.982+1G>C | ENSP00000330671.7:n.982+1G>C |
| ENST00000409508.7:c.982+1G>C | ENSP00000475939.1:n.982+1G>C |
| ENST00000483691.1:n.179G>C | |
| ENST00000496218.1:n.80+1G>C | |
| ENST00000620169.4:c.982+1G>C | ENSP00000481693.1:n.982+1G>C |
| XR_001745114.1:n.2794-931C>G | |
| XR_927090.1:n.564-931C>G |