Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100646754G>A , CM000669.2:g.100646754G>A | GRCh38 |
| NC_000007.13:g.100244377G>A , CM000669.1:g.100244377G>A | GRCh37 |
| NC_000007.12:g.100082313G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000160382.10:c.1014C>T MANE Select | ENSP00000160382.5:p.Arg338= | |
| ENST00000160382.9:c.1014C>T | ENSP00000160382.5:p.Arg338= | |
| ENST00000487125.1:n.576C>T | ||
| NM_016188.4:c.1014C>T | NP_057272.1:p.Arg338= | |
| XR_927476.1:n.1121C>T | ||
| NR_134539.1:n.1121C>T | ||
| NM_016188.5:c.1014C>T MANE Select | NP_057272.1:p.Arg338= | |
| NR_134539.2:n.1108C>T |