Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48966342A>T , CM000681.2:g.48966342A>T | GRCh38 |
| NC_000019.9:g.49469599A>T , CM000681.1:g.49469599A>T | GRCh37 |
| NC_000019.8:g.54161411A>T | NCBI36 |
| NG_008152.1:g.6034A>T | |
| NG_012923.1:g.32012T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.311A>T MANE Select | ENSP00000366525.2:p.Glu104Val | |
| ENST00000331825.10:c.311A>T | ENSP00000366525.2:p.Glu104Val | |
| ENST00000622577.2:c.311A>T | ENSP00000484043.1:p.Glu104Val | |
| NM_000146.3:c.311A>T | NP_000137.2:p.Glu104Val | |
| XM_024451447.1:c.821A>T | XP_024307215.1:p.Glu274Val | |
| NM_000146.4:c.311A>T MANE Select | NP_000137.2:p.Glu104Val |