Linked Data
ClinVar Variation Id:
92240
dbSNP Id:
rs398122995
ExAC:
2:73675551 C / T
gnomAD v2:
2-73675551-C-T
gnomAD v4:
2-73448424-C-T
PubMed:
PMID:24595103
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73448424C>T , CM000664.2:g.73448424C>T | GRCh38 |
| NC_000002.11:g.73675551C>T , CM000664.1:g.73675551C>T | GRCh37 |
| NC_000002.10:g.73529059C>T | NCBI36 |
| NG_011690.1:g.67672C>T , LRG_741:g.67672C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.1516C>T | ENSP00000507671.1:p.Gln506Ter | |
| ENST00000682801.1:c.1516C>T | ENSP00000507862.1:p.Gln506Ter | |
| ENST00000682859.1:c.1516C>T | ENSP00000508222.1:p.Gln506Ter | |
| ENST00000683791.1:c.685+16133C>T | ||
| ENST00000684548.1:c.1516C>T | ENSP00000507421.1:p.Gln506Ter | |
| ENST00000613296.6:c.1897C>T MANE Select | ENSP00000482968.1:p.Gln633Ter | |
| ENST00000484298.5:c.1771C>T | ENSP00000478155.1:p.Gln591Ter | |
| ENST00000613296.4:c.1897C>T | ENSP00000482968.1:p.Gln633Ter | |
| ENST00000614410.4:c.1897C>T | ENSP00000479094.1:p.Gln633Ter | |
| NM_015120.4:c.1900C>T , LRG_741t1:c.1900C>T | NP_055935.4:p.Gln634Ter | |
| NM_001378454.1:c.1897C>T MANE Select | NP_001365383.1:p.Gln633Ter |