Linked Data
ClinVar Variation Id:
729265
dbSNP Id:
rs201991385
ExAC:
19:41928241 G / T
gnomAD v2:
19-41928241-G-T
gnomAD v3:
19-41422336-G-T
gnomAD v4:
19-41422336-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422336G>T , CM000681.2:g.41422336G>T | GRCh38 |
| NC_000019.9:g.41928241G>T , CM000681.1:g.41928241G>T | GRCh37 |
| NC_000019.8:g.46620081G>T | NCBI36 |
| NG_013004.1:g.29548G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.819G>T MANE Select | ENSP00000269980.2:p.Thr273= | |
| ENST00000269980.6:c.819G>T | ENSP00000269980.2:p.Thr273= | |
| ENST00000457836.6:c.753G>T | ENSP00000416000.2:p.Thr251= | |
| ENST00000535632.5:n.448G>T | ||
| ENST00000540732.3:c.921G>T | ENSP00000443246.1:p.Thr307= | |
| ENST00000542943.5:c.732G>T | ENSP00000440345.1:p.Thr244= | |
| ENST00000545787.1:n.447G>T | ||
| ENST00000595085.5:c.819G>T | ENSP00000471150.2:p.Thr273= | |
| NM_000709.3:c.819G>T | NP_000700.1:p.Thr273= | |
| NM_001164783.1:c.819G>T | NP_001158255.1:p.Thr273= | |
| NM_000709.4:c.819G>T MANE Select | NP_000700.1:p.Thr273= | |
| NM_001164783.2:c.819G>T | NP_001158255.1:p.Thr273= |