Linked Data
ClinVar Variation Id:
2989731
ClinVar RCV Id:
RCV003842362
dbSNP Id:
rs774395060
ExAC:
18:47093823 C / T
gnomAD v2:
18-47093823-C-T
gnomAD v3:
18-49567453-C-T
gnomAD v4:
18-49567453-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49567453C>T , CM000680.2:g.49567453C>T | GRCh38 |
| NC_000018.9:g.47093823C>T , CM000680.1:g.47093823C>T | GRCh37 |
| NC_000018.8:g.45347821C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261292.9:c.291C>T MANE Select | ENSP00000261292.4:p.Ile97= | |
| ENST00000261292.8:c.291C>T | ENSP00000261292.4:p.Ile97= | |
| ENST00000427224.6:c.291C>T | ENSP00000387978.2:p.Ile97= | |
| ENST00000577628.5:c.399C>T | ENSP00000463835.1:p.Ile133= | |
| ENST00000579750.1:c.255C>T | ENSP00000462480.1:p.Ile85= | |
| ENST00000580036.5:c.291C>T | ENSP00000462420.1:p.Ile97= | |
| ENST00000583083.1:c.51C>T | ENSP00000463077.1:p.Ile17= | |
| NM_001308006.1:c.291C>T | NP_001294935.1:p.Ile97= | |
| NM_006033.2:c.291C>T | NP_006024.1:p.Ile97= | |
| NM_006033.3:c.291C>T | NP_006024.1:p.Ile97= | |
| XM_005258390.1:c.399C>T | XP_005258447.1:p.Ile133= | |
| XM_011526265.1:c.399C>T | XP_011524567.1:p.Ile133= | |
| XM_011526267.1:c.51C>T | XP_011524569.1:p.Ile17= | |
| XM_011526265.3:c.399C>T | XP_011524567.1:p.Ile133= | |
| XM_017026095.1:c.-413C>T | XP_016881584.1:n.-413C>T | |
| NM_006033.4:c.291C>T MANE Select | NP_006024.1:p.Ile97= | |
| NM_001308006.2:c.291C>T | NP_001294935.1:p.Ile97= |