Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6087773T>C , CM000682.2:g.6087773T>C | GRCh38 |
| NC_000020.10:g.6068420T>C , CM000682.1:g.6068420T>C | GRCh37 |
| NC_000020.9:g.6016420T>C | NCBI36 |
| NG_016213.1:g.40772A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699095.1:c.1371+4A>G | ENSP00000514127.1:n.1371+4A>G | |
| ENST00000699096.1:n.1837A>G | ||
| ENST00000217289.9:c.1371+4A>G MANE Select | ENSP00000217289.4:n.1371+4A>G | |
| ENST00000217289.8:c.1371+4A>G | ENSP00000217289.4:n.1371+4A>G | |
| ENST00000478194.1:n.331+4A>G | ||
| ENST00000536936.1:c.600+4A>G | ENSP00000441063.1:n.600+4A>G | |
| NM_017671.4:c.1371+4A>G | NP_060141.3:n.1371+4A>G | |
| XM_024451935.1:c.1371+4A>G | XP_024307703.1:n.1371+4A>G | |
| NM_017671.5:c.1371+4A>G MANE Select | NP_060141.3:n.1371+4A>G |