dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.12883443G>C , CM000685.2:g.12883443G>C | GRCh38 |
| NC_000023.10:g.12901562G>C , CM000685.1:g.12901562G>C | GRCh37 |
| NC_000023.9:g.12811483G>C | NCBI36 |
| NG_012569.1:g.21361G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380659.4:c.4-2069G>C MANE Select | ENSP00000370034.3:n.4-2069G>C | |
| ENST00000380659.3:c.4-2069G>C | ENSP00000370034.3:n.4-2069G>C | |
| NM_016562.3:c.4-2069G>C | NP_057646.1:n.4-2069G>C | |
| NM_016562.4:c.4-2069G>C MANE Select | NP_057646.1:n.4-2069G>C |