Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85889045G>T , CM000664.2:g.85889045G>T | GRCh38 |
| NC_000002.11:g.86116168G>T , CM000664.1:g.86116168G>T | GRCh37 |
| NC_000002.10:g.85969679G>T | NCBI36 |
| NG_012807.1:g.4990C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000638258.1:c.-3+4763C>A | ENSP00000491126.1:n.-3+4763C>A |
| ENST00000640322.1:c.-3+4763C>A | ENSP00000491564.1:n.-3+4763C>A |
| ENST00000640418.1:c.139+4763C>A | ENSP00000492098.1:n.139+4763C>A |