Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92832122G>C , CM000663.2:g.92832122G>C | GRCh38 |
| NC_000001.10:g.93297679G>C , CM000663.1:g.93297679G>C | GRCh37 |
| NC_000001.9:g.93070267G>C | NCBI36 |
| NG_011779.1:g.5086G>C | |
| NG_033051.1:g.134401C>G | |
| NG_011779.2:g.5137G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000969.5:c.3+5G>C MANE Select | NP_000960.2:n.3+5G>C |
| ENST00000370321.8:c.3+5G>C MANE Select | ENSP00000359345.2:n.3+5G>C |
| NM_000969.3:c.3+5G>C | NP_000960.2:n.3+5G>C |
| NR_146333.1:n.132+5G>C | |
| ENST00000315741.5:c.-277G>C | ENSP00000359338.2:n.-277G>C |
| ENST00000370321.7:c.3+5G>C | ENSP00000359345.2:n.3+5G>C |
| ENST00000470843.5:c.3+5G>C | ENSP00000473675.1:n.3+5G>C |
| ENST00000645119.1:c.3+5G>C | ENSP00000493811.1:n.3+5G>C |
| ENST00000645300.1:c.-78+5G>C | ENSP00000495589.1:n.-78+5G>C |
| ENST00000646852.1:n.32+5G>C |