Linked Data
ClinVar Variation Id:
714807
dbSNP Id:
rs371343548
ExAC:
19:41928265 C / T
gnomAD v2:
19-41928265-C-T
gnomAD v3:
19-41422360-C-T
gnomAD v4:
19-41422360-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422360C>T , CM000681.2:g.41422360C>T | GRCh38 |
| NC_000019.9:g.41928265C>T , CM000681.1:g.41928265C>T | GRCh37 |
| NC_000019.8:g.46620105C>T | NCBI36 |
| NG_013004.1:g.29572C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.843C>T MANE Select | ENSP00000269980.2:p.Gly281= | |
| ENST00000269980.6:c.843C>T | ENSP00000269980.2:p.Gly281= | |
| ENST00000457836.6:c.777C>T | ENSP00000416000.2:p.Gly259= | |
| ENST00000535632.5:n.472C>T | ||
| ENST00000540732.3:c.945C>T | ENSP00000443246.1:p.Gly315= | |
| ENST00000542943.5:c.756C>T | ENSP00000440345.1:p.Gly252= | |
| ENST00000545787.1:n.471C>T | ||
| ENST00000595085.5:c.843C>T | ENSP00000471150.2:p.Gly281= | |
| NM_000709.3:c.843C>T | NP_000700.1:p.Gly281= | |
| NM_001164783.1:c.843C>T | NP_001158255.1:p.Gly281= | |
| NM_000709.4:c.843C>T MANE Select | NP_000700.1:p.Gly281= | |
| NM_001164783.2:c.843C>T | NP_001158255.1:p.Gly281= |