Linked Data
ClinVar Variation Id:
313011
ClinVar RCV Id:
RCV000381554
dbSNP Id:
rs7152503
gnomAD v2:
14-31359404-C-T
gnomAD v3:
14-30890198-C-T
gnomAD v4:
14-30890198-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30890198C>T , CM000676.2:g.30890198C>T | GRCh38 |
| NC_000014.8:g.31359404C>T , CM000676.1:g.31359404C>T | GRCh37 |
| NC_000014.7:g.30429155C>T | NCBI36 |
| NG_008211.2:g.20664C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396618.9:c.*407C>T MANE Select | ENSP00000379862.3:n.*407C>T | |
| ENST00000555117.2:c.1534+3886C>T | ENSP00000493569.1:n.1534+3886C>T | |
| ENST00000643575.1:c.*2+405C>T | ENSP00000494838.1:n.*2+405C>T | |
| ENST00000644874.2:c.*407C>T | ENSP00000496360.1:n.*407C>T | |
| ENST00000396618.7:c.*407C>T | ENSP00000379862.3:n.*407C>T | |
| ENST00000460581.6:c.*407C>T | ENSP00000451713.1:n.*407C>T | |
| ENST00000468826.2:c.1711C>T | ||
| ENST00000475087.5:c.1477+3886C>T | ENSP00000451528.1:n.1477+3886C>T | |
| NM_001135058.1:c.*407C>T | NP_001128530.1:n.*407C>T | |
| NM_004086.2:c.*407C>T | NP_004077.1:n.*407C>T | |
| XM_011536539.1:c.*2+405C>T | XP_011534841.1:n.*2+405C>T | |
| NM_001347720.1:c.*407C>T | NP_001334649.1:n.*407C>T | |
| XM_017021071.1:c.*407C>T | XP_016876560.1:n.*407C>T | |
| XM_024449506.1:c.*407C>T | XP_024305274.1:n.*407C>T | |
| NM_004086.3:c.*407C>T MANE Select | NP_004077.1:n.*407C>T | |
| NM_001135058.2:c.*407C>T | NP_001128530.1:n.*407C>T | |
| NM_001347720.2:c.*407C>T | NP_001334649.1:n.*407C>T |