ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116916214T>A , CM000668.2:g.116916214T>A | GRCh38 |
| NC_000006.11:g.117237377T>A , CM000668.1:g.117237377T>A | GRCh37 |
| NC_000006.10:g.117344070T>A | NCBI36 |
| NG_027699.1:g.44002T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332958.3:c.872T>A MANE Select | ENSP00000332208.2:p.Leu291Ter | |
| ENST00000332958.2:c.872T>A | ENSP00000332208.2:p.Leu291Ter | |
| ENST00000471966.1:n.563T>A | ||
| ENST00000487683.5:n.936T>A | ||
| NM_173560.3:c.872T>A | NP_775831.2:p.Leu291Ter | |
| XM_011535589.1:c.764T>A | XP_011533891.1:p.Leu255Ter | |
| XM_017010477.1:c.494T>A | XP_016865966.1:p.Leu165Ter | |
| NM_173560.4:c.872T>A MANE Select | NP_775831.2:p.Leu291Ter |