Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6084170C>T , CM000682.2:g.6084170C>T | GRCh38 |
| NC_000020.10:g.6064817C>T , CM000682.1:g.6064817C>T | GRCh37 |
| NC_000020.9:g.6012817C>T | NCBI36 |
| NG_016213.1:g.44375G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.5:c.1594-6G>A MANE Select | NP_060141.3:n.1594-6G>A |
| ENST00000217289.9:c.1594-6G>A MANE Select | ENSP00000217289.4:n.1594-6G>A |
| NM_017671.4:c.1594-6G>A | NP_060141.3:n.1594-6G>A |
| ENST00000217289.8:c.1594-6G>A | ENSP00000217289.4:n.1594-6G>A |
| ENST00000478194.1:n.554-6G>A | |
| ENST00000536936.1:c.823-6G>A | ENSP00000441063.1:n.823-6G>A |
| ENST00000699095.1:c.1594-6G>A | ENSP00000514127.1:n.1594-6G>A |
| XM_024451935.1:c.1594-6G>A | XP_024307703.1:n.1594-6G>A |