Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47369259G>C , CM000664.2:g.47369259G>C | GRCh38 |
| NC_000002.11:g.47596398G>C , CM000664.1:g.47596398G>C | GRCh37 |
| NC_000002.10:g.47449902G>C | NCBI36 |
| NG_012352.2:g.29097G>C , LRG_215:g.29097G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002354.2:c.-247G>C , LRG_215t1:c.-247G>C | NP_002345.2:n.-247G>C |
| ENST00000263735.8:c.-247G>C | ENSP00000263735.4:n.-247G>C |
| ENST00000405271.5:c.160+24G>C | ENSP00000385476.1:n.160+24G>C |
| ENST00000456133.5:c.160+24G>C | ENSP00000410675.1:n.160+24G>C |