Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23641315C>G , CM000678.2:g.23641315C>G | GRCh38 |
| NC_000016.9:g.23652636C>G , CM000678.1:g.23652636C>G | GRCh37 |
| NC_000016.8:g.23560137C>G | NCBI36 |
| NG_007406.1:g.5043G>C , LRG_308:g.5043G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024675.3:c.-158G>C , LRG_308t1:c.-158G>C | NP_078951.2:n.-158G>C |
| ENST00000697383.1:c.-158G>C | ENSP00000513289.1:n.-158G>C |
| XM_011545948.2:c.-1177G>C | XP_011544250.1:n.-1177G>C |
| XM_017023672.2:c.-158G>C | XP_016879161.1:n.-158G>C |
| XM_017023673.2:c.-158G>C | XP_016879162.1:n.-158G>C |