Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766801C>A , CM000681.2:g.45766801C>A | GRCh38 |
| NC_000019.9:g.46270059C>A , CM000681.1:g.46270059C>A | GRCh37 |
| NC_000019.8:g.50961899C>A | NCBI36 |
| NG_012745.1:g.7439G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1158G>T MANE Select | ENSP00000316842.4:p.Leu386= | |
| ENST00000317578.6:c.1158G>T | ENSP00000316842.4:p.Leu386= | |
| ENST00000560160.1:c.587-690G>T | ||
| ENST00000560168.1:c.*346G>T | ENSP00000453189.2:n.*346G>T | |
| ENST00000622857.1:c.16-839G>T | ENSP00000481365.1:n.16-839G>T | |
| NM_175875.4:c.1158G>T | NP_787071.2:p.Leu386= | |
| NM_175875.5:c.1158G>T MANE Select | NP_787071.3:p.Leu386= |