Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6084038A>G , CM000682.2:g.6084038A>G | GRCh38 |
| NC_000020.10:g.6064685A>G , CM000682.1:g.6064685A>G | GRCh37 |
| NC_000020.9:g.6012685A>G | NCBI36 |
| NG_016213.1:g.44507T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.5:c.1718+2T>C MANE Select | NP_060141.3:n.1718+2T>C |
| ENST00000217289.9:c.1718+2T>C MANE Select | ENSP00000217289.4:n.1718+2T>C |
| NM_017671.4:c.1718+2T>C | NP_060141.3:n.1718+2T>C |
| ENST00000217289.8:c.1718+2T>C | ENSP00000217289.4:n.1718+2T>C |
| ENST00000478194.1:n.678+2T>C | |
| ENST00000536936.1:c.947+2T>C | ENSP00000441063.1:n.947+2T>C |
| ENST00000699095.1:c.1718+2T>C | ENSP00000514127.1:n.1718+2T>C |
| XM_024451935.1:c.1718+2T>C | XP_024307703.1:n.1718+2T>C |