Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814201A>T , CM000671.2:g.129814201A>T | GRCh38 |
| NC_000009.11:g.132576480A>T , CM000671.1:g.132576480A>T | GRCh37 |
| NC_000009.10:g.131616301A>T | NCBI36 |
| NG_008049.1:g.14962T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.770T>A MANE Select | ENSP00000345719.4:p.Leu257Ter | |
| ENST00000651202.1:c.*38T>A | ENSP00000498222.1:n.*38T>A | |
| ENST00000351698.4:c.770T>A | ENSP00000345719.4:p.Leu257Ter | |
| ENST00000474192.1:n.354T>A | ||
| NM_000113.2:c.770T>A | NP_000104.1:p.Leu257Ter | |
| XR_929731.1:n.1097T>A | ||
| XR_929731.3:n.965T>A | ||
| NM_000113.3:c.770T>A MANE Select | NP_000104.1:p.Leu257Ter |