Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215680148C>G , CM000663.2:g.215680148C>G | GRCh38 |
| NC_000001.10:g.215853490C>G , CM000663.1:g.215853490C>G | GRCh37 |
| NC_000001.9:g.213920113C>G | NCBI36 |
| NG_009497.1:g.748249G>C | |
| NG_009497.2:g.748301G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.12294+1G>C MANE Select | NP_996816.3:n.12294+1G>C |
| ENST00000307340.8:c.12294+1G>C MANE Select | ENSP00000305941.3:n.12294+1G>C |
| NM_206933.2:c.12294+1G>C | NP_996816.2:n.12294+1G>C |
| NM_206933.3:c.12294+1G>C | NP_996816.2:n.12294+1G>C |
| ENST00000307340.7:c.12294+1G>C | ENSP00000305941.3:n.12294+1G>C |
| ENST00000674083.1:c.12294+1G>C | ENSP00000501296.1:n.12294+1G>C |