Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40867126G>T , CM000679.2:g.40867126G>T | GRCh38 |
| NC_000017.10:g.39023378G>T , CM000679.1:g.39023378G>T | GRCh37 |
| NC_000017.9:g.36276904G>T | NCBI36 |
| NG_008077.1:g.5085C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.61C>A MANE Select | ENSP00000251643.4:p.Leu21Ile | |
| ENST00000647902.1:c.61C>A | ENSP00000497770.1:p.Leu21Ile | |
| ENST00000251643.4:c.61C>A | ENSP00000251643.4:p.Leu21Ile | |
| NM_000223.3:c.61C>A | NP_000214.1:p.Leu21Ile | |
| XR_934754.1:n.1500+16266G>T | ||
| XR_934754.2:n.2008+16266G>T | ||
| NM_000223.4:c.61C>A MANE Select | NP_000214.1:p.Leu21Ile |