Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36662875G>C , CM000676.2:g.36662875G>C | GRCh38 |
| NC_000014.8:g.37132080G>C , CM000676.1:g.37132080G>C | GRCh37 |
| NC_000014.7:g.36201831G>C | NCBI36 |
| NG_013357.1:g.10308G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361487.7:c.5-22G>C MANE Select | ENSP00000355245.6:n.5-22G>C | |
| ENST00000555639.2:c.5-22G>C | ENSP00000501203.1:n.5-22G>C | |
| ENST00000361487.6:c.5-22G>C | ENSP00000355245.6:n.5-22G>C | |
| ENST00000402703.6:c.5-22G>C | ENSP00000384817.2:n.5-22G>C | |
| ENST00000554201.1:c.-579G>C | ENSP00000450434.1:n.-579G>C | |
| ENST00000555639.1:n.307-22G>C | ||
| NM_006194.3:c.5-22G>C | NP_006185.1:n.5-22G>C | |
| NM_001372076.1:c.5-22G>C MANE Select | NP_001359005.1:n.5-22G>C | |
| NM_006194.4:c.5-22G>C | NP_006185.1:n.5-22G>C |