Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75006168G>C , CM000676.2:g.75006168G>C | GRCh38 |
| NC_000014.8:g.75472871G>C , CM000676.1:g.75472871G>C | GRCh37 |
| NC_000014.7:g.74542624G>C | NCBI36 |
| NG_013333.1:g.8260G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.693+207G>C MANE Select | ENSP00000266126.5:n.693+207G>C | |
| ENST00000266126.9:c.693+207G>C | ENSP00000266126.5:n.693+207G>C | |
| ENST00000553401.5:c.691+207G>C | ENSP00000451681.1:n.691+207G>C | |
| ENST00000554748.2:c.57+207G>C | ENSP00000452582.2:n.57+207G>C | |
| ENST00000556028.5:c.*41+207G>C | ENSP00000452311.1:n.*41+207G>C | |
| NM_014239.3:c.693+207G>C | NP_055054.1:n.693+207G>C | |
| NM_014239.4:c.693+207G>C MANE Select | NP_055054.1:n.693+207G>C |