Linked Data
ClinVar Variation Id:
1673762
ClinVar RCV Id:
RCV002206166
dbSNP Id:
rs2122142848
MyVariant Identifiers:
chr19:g.41928097G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422192G>T , CM000681.2:g.41422192G>T | GRCh38 |
| NC_000019.9:g.41928097G>T , CM000681.1:g.41928097G>T | GRCh37 |
| NC_000019.8:g.46619937G>T | NCBI36 |
| NG_013004.1:g.29404G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.675G>T MANE Select | ENSP00000269980.2:p.Arg225= | |
| ENST00000269980.6:c.675G>T | ENSP00000269980.2:p.Arg225= | |
| ENST00000457836.6:c.609G>T | ENSP00000416000.2:p.Arg203= | |
| ENST00000535632.5:n.304G>T | ||
| ENST00000538423.5:n.801G>T | ||
| ENST00000540732.3:c.777G>T | ENSP00000443246.1:p.Arg259= | |
| ENST00000541315.1:c.575G>T | ||
| ENST00000542943.5:c.588G>T | ENSP00000440345.1:p.Arg196= | |
| ENST00000545787.1:n.303G>T | ||
| ENST00000595085.5:c.675G>T | ENSP00000471150.2:p.Arg225= | |
| NM_000709.3:c.675G>T | NP_000700.1:p.Arg225= | |
| NM_001164783.1:c.675G>T | NP_001158255.1:p.Arg225= | |
| NM_000709.4:c.675G>T MANE Select | NP_000700.1:p.Arg225= | |
| NM_001164783.2:c.675G>T | NP_001158255.1:p.Arg225= |