Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403110G>C , CM000664.2:g.47403110G>C | GRCh38 |
| NC_000002.11:g.47630249G>C , CM000664.1:g.47630249G>C | GRCh37 |
| NC_000002.10:g.47483753G>C | NCBI36 |
| NG_007110.2:g.4987G>C , LRG_218:g.4987G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000251.2:c.-82G>C , LRG_218t1:c.-82G>C | NP_000242.1:n.-82G>C |
| NM_001258281.1:c.-96G>C | NP_001245210.1:n.-96G>C |
| ENST00000233146.6:c.-82G>C | ENSP00000233146.2:n.-82G>C |
| ENST00000454849.5:c.-96G>C | ENSP00000411482.1:n.-96G>C |
| ENST00000543555.5:c.-96G>C | ENSP00000442697.1:n.-96G>C |
| ENST00000543555.6:c.-96G>C | ENSP00000442697.1:n.-96G>C |