Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103553659C>T , CM000669.2:g.103553659C>T | GRCh38 |
| NC_000007.13:g.103194106C>T , CM000669.1:g.103194106C>T | GRCh37 |
| NC_000007.12:g.102981342C>T | NCBI36 |
| NG_011877.1:g.440858G>A | |
| NG_011877.2:g.440858G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.5969+1G>A | ENSP00000388446.3:n.5969+1G>A | |
| ENST00000428762.6:c.5969+1G>A MANE Select | ENSP00000392423.1:n.5969+1G>A | |
| ENST00000679867.1:n.5853+1G>A | ||
| ENST00000681034.1:c.5969+1G>A | ENSP00000506075.1:n.5969+1G>A | |
| ENST00000681199.1:n.1737+1G>A | ||
| ENST00000343529.9:c.5969+1G>A | ENSP00000345694.5:n.5969+1G>A | |
| ENST00000424685.2:c.5969+1G>A | ENSP00000388446.2:n.5969+1G>A | |
| ENST00000428762.5:c.5969+1G>A | ENSP00000392423.1:n.5969+1G>A | |
| NM_005045.3:c.5969+1G>A | NP_005036.2:n.5969+1G>A | |
| NM_173054.2:c.5969+1G>A | NP_774959.1:n.5969+1G>A | |
| NM_005045.4:c.5969+1G>A MANE Select | NP_005036.2:n.5969+1G>A | |
| NM_173054.3:c.5969+1G>A | NP_774959.1:n.5969+1G>A |