Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218740T>C , CM000676.2:g.93218740T>C | GRCh38 |
| NC_000014.8:g.93685086T>C , CM000676.1:g.93685086T>C | GRCh37 |
| NC_000014.7:g.92754839T>C | NCBI36 |
| NG_051089.1:g.16685T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.810+5T>C MANE Select | ENSP00000013070.6:n.810+5T>C | |
| ENST00000013070.10:c.810+5T>C | ENSP00000013070.6:n.810+5T>C | |
| ENST00000416753.5:c.582+5T>C | ENSP00000391706.2:n.582+5T>C | |
| ENST00000553674.1:c.*511+5T>C | ENSP00000450470.1:n.*511+5T>C | |
| ENST00000553857.5:c.378+3459T>C | ||
| ENST00000555329.1:c.55+5T>C | ||
| NM_175748.3:c.810+5T>C | NP_786924.2:n.810+5T>C | |
| NR_038150.1:n.912+5T>C | ||
| NM_175748.4:c.810+5T>C MANE Select | NP_786924.2:n.810+5T>C | |
| NR_038150.2:n.712+5T>C |