Linked Data
ClinVar Variation Id:
3970
ClinVar RCV Id:
RCV000004176
dbSNP Id:
rs193919338
gnomAD v4:
2-73490339-C-T
PubMed:
PMID:11941369
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490339C>T , CM000664.2:g.73490339C>T | GRCh38 |
| NC_000002.11:g.73717466C>T , CM000664.1:g.73717466C>T | GRCh37 |
| NC_000002.10:g.73570974C>T | NCBI36 |
| NG_011690.1:g.109587C>T , LRG_741:g.109587C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7999C>T | ENSP00000507671.1:p.Gln2667Ter | |
| ENST00000682801.1:c.7999C>T | ENSP00000507862.1:p.Gln2667Ter | |
| ENST00000682859.1:c.7999C>T | ENSP00000508222.1:p.Gln2667Ter | |
| ENST00000683791.1:c.1391C>T | ||
| ENST00000684460.1:c.5451C>T | ||
| ENST00000684548.1:c.7999C>T | ENSP00000507421.1:p.Gln2667Ter | |
| ENST00000684590.1:c.2446C>T | ENSP00000507376.1:p.Gln816Ter | |
| ENST00000684656.1:c.5451C>T | ||
| ENST00000613296.6:c.8380C>T MANE Select | ENSP00000482968.1:p.Gln2794Ter | |
| ENST00000651434.1:c.896-29436C>T | ||
| ENST00000423048.5:c.3030+181C>T | ENSP00000399833.1:n.3030+181C>T | |
| ENST00000484298.5:c.8254C>T | ENSP00000478155.1:p.Gln2752Ter | |
| ENST00000613296.4:c.8380C>T | ENSP00000482968.1:p.Gln2794Ter | |
| ENST00000614410.4:c.8380C>T | ENSP00000479094.1:p.Gln2794Ter | |
| ENST00000620466.4:n.2183C>T | ||
| NM_015120.4:c.8383C>T , LRG_741t1:c.8383C>T | NP_055935.4:p.Gln2795Ter | |
| NM_001378454.1:c.8380C>T MANE Select | NP_001365383.1:p.Gln2794Ter |