Linked Data
ClinVar Variation Id:
39847
ClinVar RCV Id:
RCV000033074
dbSNP Id:
rs397514621
gnomAD v2:
19-42841056-C-T
gnomAD v3:
19-42336904-C-T
gnomAD v4:
19-42336904-C-T
PubMed:
PMID:23063620
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42336904C>T , CM000681.2:g.42336904C>T | GRCh38 |
| NC_000019.9:g.42841056C>T , CM000681.1:g.42841056C>T | GRCh37 |
| NC_000019.8:g.47532896C>T | NCBI36 |
| NG_033030.1:g.16296C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251268.11:c.1342C>T MANE Select | ENSP00000251268.5:p.Arg448Ter | |
| ENST00000251268.10:c.1342C>T | ENSP00000251268.5:p.Arg448Ter | |
| ENST00000334370.8:c.1342C>T | ENSP00000334219.4:p.Arg448Ter | |
| ENST00000378073.5:c.-5744C>T | ENSP00000367313.4:n.-5744C>T | |
| NM_001271938.1:c.1342C>T | NP_001258867.1:p.Arg448Ter | |
| NM_001410.2:c.1342C>T | NP_001401.2:p.Arg448Ter | |
| NM_001271938.2:c.1342C>T MANE Select | NP_001258867.1:p.Arg448Ter | |
| NM_001410.3:c.1342C>T | NP_001401.2:p.Arg448Ter |