Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94047222C>G , CM000663.2:g.94047222C>G | GRCh38 |
| NC_000001.10:g.94512778C>G , CM000663.1:g.94512778C>G | GRCh37 |
| NC_000001.9:g.94285366C>G | NCBI36 |
| NG_009073.1:g.78928G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2744-129G>C MANE Select | ENSP00000359245.3:n.2744-129G>C | |
| ENST00000649773.1:c.2522-129G>C | ENSP00000496882.1:n.2522-129G>C | |
| ENST00000370225.3:c.2744-129G>C | ENSP00000359245.3:n.2744-129G>C | |
| ENST00000536513.5:c.-64-7133G>C | ENSP00000439707.2:n.-64-7133G>C | |
| NM_000350.2:c.2744-129G>C | NP_000341.2:n.2744-129G>C | |
| NM_000350.3:c.2744-129G>C MANE Select | NP_000341.2:n.2744-129G>C |