Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38694908T>C , CM000666.2:g.38694908T>C | GRCh38 |
| NC_000004.11:g.38696529T>C , CM000666.1:g.38696529T>C | GRCh37 |
| NC_000004.10:g.38372924T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016531.6:c.856+2T>C MANE Select | NP_057615.3:n.856+2T>C |
| ENST00000261438.10:c.856+2T>C MANE Select | ENSP00000261438.5:n.856+2T>C |
| NM_016531.5:c.856+2T>C | NP_057615.3:n.856+2T>C |
| ENST00000261438.9:c.856+2T>C | ENSP00000261438.5:n.856+2T>C |
| XM_006714015.2:c.781+2T>C | XP_006714078.1:n.781+2T>C |
| XM_017008279.2:c.781+2T>C | XP_016863768.1:n.781+2T>C |
| XR_001741235.2:n.1093+2T>C |