Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17053947C>G , CM000663.2:g.17053947C>G | GRCh38 |
| NC_000001.10:g.17380442C>G , CM000663.1:g.17380442C>G | GRCh37 |
| NC_000001.9:g.17253029C>G | NCBI36 |
| NG_012340.1:g.5224G>C , LRG_316:g.5224G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003000.3:c.72+1G>C MANE Select | NP_002991.2:n.72+1G>C |
| ENST00000375499.8:c.72+1G>C MANE Select | ENSP00000364649.3:n.72+1G>C |
| NM_003000.2:c.72+1G>C , LRG_316t1:c.72+1G>C | NP_002991.2:n.72+1G>C |
| ENST00000375499.7:c.72+1G>C | ENSP00000364649.3:n.72+1G>C |
| ENST00000466613.2:n.84+1G>C | |
| ENST00000485515.5:n.60+1G>C |