dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41381096G>C , CM000684.2:g.41381096G>C | GRCh38 |
| NC_000022.10:g.41777100G>C , CM000684.1:g.41777100G>C | GRCh37 |
| NC_000022.9:g.40107046G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406644.7:c.68-6255G>C | ENSP00000385256.3:n.68-6255G>C | |
| NM_001145398.2:c.68-6255G>C | NP_001138870.1:n.68-6255G>C | |
| XR_938271.1:n.103+644C>G | ||
| XR_938271.2:n.95+644C>G | ||
| NM_001145398.3:c.68-6255G>C | NP_001138870.1:n.68-6255G>C |