Linked Data
ClinVar Variation Id:
1745997
ClinVar RCV Id:
RCV002338589
MyVariant Identifiers:
chr10:g.121431778T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672266T>A , CM000672.2:g.119672266T>A | GRCh38 |
| NC_000010.10:g.121431778T>A , CM000672.1:g.121431778T>A | GRCh37 |
| NC_000010.9:g.121421768T>A | NCBI36 |
| NG_016125.1:g.25897T>A , LRG_742:g.25897T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.519T>A MANE Select | ENSP00000358081.4:p.Ser173= | |
| ENST00000369085.7:c.519T>A | ENSP00000358081.3:p.Ser173= | |
| ENST00000450186.1:c.345T>A | ENSP00000410036.1:p.Ser115= | |
| NM_004281.3:c.519T>A , LRG_742t1:c.519T>A | NP_004272.2:p.Ser173= | |
| XM_005270287.1:c.519T>A | XP_005270344.1:p.Ser173= | |
| XM_005270287.2:c.519T>A | XP_005270344.1:p.Ser173= | |
| NM_004281.4:c.519T>A MANE Select | NP_004272.2:p.Ser173= |