Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32475107G>T , CM000684.2:g.32475107G>T | GRCh38 |
| NC_000022.10:g.32871094G>T , CM000684.1:g.32871094G>T | GRCh37 |
| NC_000022.9:g.31201094G>T | NCBI36 |
| NG_016001.1:g.5388G>T | |
| NG_016001.2:g.5388G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.105G>T MANE Select | ENSP00000266087.7:p.Leu35= | |
| ENST00000266087.11:c.105G>T | ENSP00000266087.7:p.Leu35= | |
| ENST00000420700.5:c.105G>T | ENSP00000406155.1:p.Leu35= | |
| ENST00000425028.5:c.105G>T | ENSP00000395823.1:p.Leu35= | |
| ENST00000492535.1:n.93G>T | ||
| NM_012179.3:c.105G>T | NP_036311.3:p.Leu35= | |
| XM_011530106.1:c.-69G>T | XP_011528408.1:n.-69G>T | |
| XM_024452207.1:c.-86G>T | XP_024307975.1:n.-86G>T | |
| NM_012179.4:c.105G>T MANE Select | NP_036311.3:p.Leu35= |