dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51333812C>G , CM000674.2:g.51333812C>G | GRCh38 |
| NC_000012.11:g.51727596C>G , CM000674.1:g.51727596C>G | GRCh37 |
| NC_000012.10:g.50013863C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293636.2:c.610-3979G>C MANE Select | ENSP00000293636.1:n.610-3979G>C | |
| ENST00000293636.1:c.610-3979G>C | ENSP00000293636.1:n.610-3979G>C | |
| NM_001971.5:c.610-3979G>C | NP_001962.3:n.610-3979G>C | |
| NM_001971.6:c.610-3979G>C MANE Select | NP_001962.3:n.610-3979G>C |