Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115632C>G , CM000681.2:g.10115632C>G | GRCh38 |
| NC_000019.9:g.10226308C>G , CM000681.1:g.10226308C>G | GRCh37 |
| NC_000019.8:g.10087308C>G | NCBI36 |
| NG_047007.1:g.9112C>G | |
| NG_051197.1:g.9293G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.841-47G>C MANE Select | ENSP00000253108.3:n.841-47G>C | |
| ENST00000253108.8:c.841-47G>C | ENSP00000253108.3:n.841-47G>C | |
| ENST00000589454.5:c.817-47G>C | ENSP00000466860.1:n.817-47G>C | |
| ENST00000590158.1:n.860-47G>C | ||
| ENST00000593054.5:c.235-47G>C | ENSP00000467187.1:n.235-47G>C | |
| NM_003755.3:c.841-47G>C | NP_003746.2:n.841-47G>C | |
| NM_003755.4:c.841-47G>C | NP_003746.2:n.841-47G>C | |
| NM_003755.5:c.841-47G>C MANE Select | NP_003746.2:n.841-47G>C |