Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31033755A>C , CM000670.2:g.31033755A>C | GRCh38 |
| NC_000008.10:g.30891271A>C , CM000670.1:g.30891271A>C | GRCh37 |
| NC_000008.9:g.31010813A>C | NCBI36 |
| NG_008870.1:g.5494A>C , LRG_524:g.5494A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000553.4:c.-295A>C , LRG_524t1:c.-295A>C | NP_000544.2:n.-295A>C | |
| NM_000553.5:c.-295A>C | NP_000544.2:n.-295A>C | |
| XM_011544639.3:c.-295A>C | XP_011542941.1:n.-295A>C | |
| XR_949470.3:n.7A>C | ||
| XR_949471.3:n.7A>C | ||
| XR_949472.3:n.7A>C |