dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.58491017C>G , CM000670.2:g.58491017C>G | GRCh38 |
| NC_000008.10:g.59403576C>G , CM000670.1:g.59403576C>G | GRCh37 |
| NC_000008.9:g.59566130C>G | NCBI36 |
| NG_007969.1:g.14146G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301645.4:c.*458G>C MANE Select | ENSP00000301645.3:n.*458G>C | |
| ENST00000301645.3:c.*458G>C | ENSP00000301645.3:n.*458G>C | |
| NM_000780.3:c.*458G>C | NP_000771.2:n.*458G>C | |
| NM_000780.4:c.*458G>C MANE Select | NP_000771.2:n.*458G>C |