Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65246168T>A , CM000674.2:g.65246168T>A | GRCh38 |
| NC_000012.11:g.65639948T>A , CM000674.1:g.65639948T>A | GRCh37 |
| NC_000012.10:g.63926215T>A | NCBI36 |
| NG_016210.1:g.81598T>A | |
| NG_016210.2:g.81598T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2579T>A MANE Select | ENSP00000308369.2:p.Leu860Ter | |
| ENST00000308330.2:c.2579T>A | ENSP00000308369.2:p.Leu860Ter | |
| ENST00000539442.1:n.561T>A | ||
| ENST00000544506.1:n.299T>A | ||
| ENST00000545026.1:n.397T>A | ||
| NM_001167614.1:c.2576T>A | NP_001161086.1:p.Leu859Ter | |
| NM_014319.4:c.2579T>A | NP_055134.2:p.Leu860Ter | |
| NM_014319.5:c.2579T>A MANE Select | NP_055134.2:p.Leu860Ter | |
| NM_001167614.2:c.2576T>A | NP_001161086.1:p.Leu859Ter |