Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32475023T>C , CM000684.2:g.32475023T>C | GRCh38 |
| NC_000022.10:g.32871010T>C , CM000684.1:g.32871010T>C | GRCh37 |
| NC_000022.9:g.31201010T>C | NCBI36 |
| NG_016001.1:g.5304T>C | |
| NG_016001.2:g.5304T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.21T>C MANE Select | ENSP00000266087.7:p.Leu7= | |
| ENST00000266087.11:c.21T>C | ENSP00000266087.7:p.Leu7= | |
| ENST00000420700.5:c.21T>C | ENSP00000406155.1:p.Leu7= | |
| ENST00000425028.5:c.21T>C | ENSP00000395823.1:p.Leu7= | |
| ENST00000492535.1:n.9T>C | ||
| NM_012179.3:c.21T>C | NP_036311.3:p.Leu7= | |
| XM_011530106.1:c.-153T>C | XP_011528408.1:n.-153T>C | |
| XM_024452207.1:c.-170T>C | XP_024307975.1:n.-170T>C | |
| NM_012179.4:c.21T>C MANE Select | NP_036311.3:p.Leu7= |