Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100646763A>G , CM000669.2:g.100646763A>G | GRCh38 |
| NC_000007.13:g.100244386A>G , CM000669.1:g.100244386A>G | GRCh37 |
| NC_000007.12:g.100082322A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000160382.10:c.1005T>C MANE Select | ENSP00000160382.5:p.Ile335= | |
| ENST00000160382.9:c.1005T>C | ENSP00000160382.5:p.Ile335= | |
| ENST00000487125.1:n.567T>C | ||
| NM_016188.4:c.1005T>C | NP_057272.1:p.Ile335= | |
| XR_927476.1:n.1112T>C | ||
| NR_134539.1:n.1112T>C | ||
| NM_016188.5:c.1005T>C MANE Select | NP_057272.1:p.Ile335= | |
| NR_134539.2:n.1099T>C |