Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88734627T>C , CM000664.2:g.88734627T>C | GRCh38 |
| NC_000002.11:g.89034144T>C , CM000664.1:g.89034144T>C | GRCh37 |
| NC_000002.10:g.88815259T>C | NCBI36 |
| NG_016710.1:g.47969T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144563.3:c.527+11T>C MANE Select | NP_653164.2:n.527+11T>C |
| ENST00000283646.5:c.527+11T>C MANE Select | ENSP00000283646.3:n.527+11T>C |
| NM_144563.2:c.527+11T>C | NP_653164.2:n.527+11T>C |
| ENST00000283646.4:c.527+11T>C | ENSP00000283646.3:n.527+11T>C |
| XR_939673.1:n.578+11T>C |