Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2403391T>C , CM000682.2:g.2403391T>C | GRCh38 |
| NC_000020.10:g.2384037T>C , CM000682.1:g.2384037T>C | GRCh37 |
| NC_000020.9:g.2332037T>C | NCBI36 |
| NG_031917.1:g.27484T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198994.3:c.990-6T>C MANE Select | NP_945345.2:n.990-6T>C |
| ENST00000202625.7:c.990-6T>C MANE Select | ENSP00000202625.2:n.990-6T>C |
| NM_001254734.1:c.990-6T>C | NP_001241663.1:n.990-6T>C |
| NM_001254734.2:c.990-6T>C | NP_001241663.1:n.990-6T>C |
| NM_198994.2:c.990-6T>C | NP_945345.2:n.990-6T>C |
| ENST00000202625.6:c.990-6T>C | ENSP00000202625.2:n.990-6T>C |
| ENST00000381423.1:c.990-6T>C | ENSP00000370831.1:n.990-6T>C |