Linked Data
ClinVar Variation Id:
3975
dbSNP Id:
rs193919340
ExAC:
2:73717247 C / T
gnomAD v2:
2-73717247-C-T
gnomAD v4:
2-73490120-C-T
PubMed:
PMID:17850632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490120C>T , CM000664.2:g.73490120C>T | GRCh38 |
| NC_000002.11:g.73717247C>T , CM000664.1:g.73717247C>T | GRCh37 |
| NC_000002.10:g.73570755C>T | NCBI36 |
| NG_011690.1:g.109368C>T , LRG_741:g.109368C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7780C>T | ENSP00000507671.1:p.Arg2594Ter | |
| ENST00000682801.1:c.7780C>T | ENSP00000507862.1:p.Arg2594Ter | |
| ENST00000682859.1:c.7780C>T | ENSP00000508222.1:p.Arg2594Ter | |
| ENST00000683791.1:c.1172C>T | ||
| ENST00000684460.1:c.5232C>T | ||
| ENST00000684548.1:c.7780C>T | ENSP00000507421.1:p.Arg2594Ter | |
| ENST00000684590.1:c.2227C>T | ENSP00000507376.1:p.Arg743Ter | |
| ENST00000684656.1:c.5232C>T | ||
| ENST00000613296.6:c.8161C>T MANE Select | ENSP00000482968.1:p.Arg2721Ter | |
| ENST00000651434.1:c.896-29655C>T | ||
| ENST00000423048.5:c.2992C>T | ENSP00000399833.1:p.Arg998Ter | |
| ENST00000484298.5:c.8035C>T | ENSP00000478155.1:p.Arg2679Ter | |
| ENST00000613296.4:c.8161C>T | ENSP00000482968.1:p.Arg2721Ter | |
| ENST00000614410.4:c.8161C>T | ENSP00000479094.1:p.Arg2721Ter | |
| ENST00000620466.4:n.1964C>T | ||
| NM_015120.4:c.8164C>T , LRG_741t1:c.8164C>T | NP_055935.4:p.Arg2722Ter | |
| NM_001378454.1:c.8161C>T MANE Select | NP_001365383.1:p.Arg2721Ter |