Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312427T>C , CM000676.2:g.21312427T>C | GRCh38 |
| NC_000014.8:g.21780586T>C , CM000676.1:g.21780586T>C | GRCh37 |
| NC_000014.7:g.20850426T>C | NCBI36 |
| NG_008933.1:g.29451T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1078-6T>C MANE Select | ENSP00000382895.2:n.1078-6T>C | |
| ENST00000400017.6:c.1078-6T>C | ENSP00000382895.2:n.1078-6T>C | |
| ENST00000556336.5:c.997-6T>C | ENSP00000450445.1:n.997-6T>C | |
| ENST00000557771.5:c.997-6T>C | ENSP00000451219.1:n.997-6T>C | |
| NM_020366.3:c.1078-6T>C | NP_065099.3:n.1078-6T>C | |
| XM_011536983.1:c.1045-6T>C | XP_011535285.1:n.1045-6T>C | |
| NM_020366.4:c.1078-6T>C MANE Select | NP_065099.3:n.1078-6T>C |