Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672582T>A , CM000672.2:g.119672582T>A | GRCh38 |
| NC_000010.10:g.121432094T>A , CM000672.1:g.121432094T>A | GRCh37 |
| NC_000010.9:g.121422084T>A | NCBI36 |
| NG_016125.1:g.26213T>A , LRG_742:g.26213T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.835T>A MANE Select | ENSP00000358081.4:p.Ser279Thr | |
| ENST00000369085.7:c.835T>A | ENSP00000358081.3:p.Ser279Thr | |
| ENST00000450186.1:c.661T>A | ENSP00000410036.1:p.Ser221Thr | |
| NM_004281.3:c.835T>A , LRG_742t1:c.835T>A | NP_004272.2:p.Ser279Thr | |
| XM_005270287.1:c.835T>A | XP_005270344.1:p.Ser279Thr | |
| XM_005270287.2:c.835T>A | XP_005270344.1:p.Ser279Thr | |
| NM_004281.4:c.835T>A MANE Select | NP_004272.2:p.Ser279Thr |