Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19953649T>C , CM000670.2:g.19953649T>C | GRCh38 |
| NC_000008.10:g.19811160T>C , CM000670.1:g.19811160T>C | GRCh37 |
| NC_000008.9:g.19855440T>C | NCBI36 |
| NG_008855.1:g.19579T>C | |
| NG_008855.2:g.56933T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000237.3:c.541+228T>C MANE Select | NP_000228.1:n.541+228T>C |
| ENST00000650287.1:c.541+228T>C MANE Select | ENSP00000497642.1:n.541+228T>C |
| NM_000237.2:c.541+228T>C | NP_000228.1:n.541+228T>C |
| ENST00000311322.8:c.541+228T>C | ENSP00000309757.6:n.541+228T>C |
| ENST00000520959.5:c.313+228T>C | ENSP00000428496.1:n.313+228T>C |