Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136648183A>C , CM000685.2:g.136648183A>C | GRCh38 |
| NC_000023.10:g.135730342A>C , CM000685.1:g.135730342A>C | GRCh37 |
| NC_000023.9:g.135558008A>C | NCBI36 |
| NG_007280.1:g.5007A>C , LRG_141:g.5007A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.-66A>C | ENSP00000512122.1:n.-66A>C | |
| ENST00000695725.1:c.-66A>C | ENSP00000512123.1:n.-66A>C | |
| ENST00000370629.7:c.-66A>C MANE Select | ENSP00000359663.2:n.-66A>C | |
| NM_000074.2:c.-66A>C , LRG_141t1:c.-66A>C | NP_000065.1:n.-66A>C | |
| NM_000074.3:c.-66A>C MANE Select | NP_000065.1:n.-66A>C |