Linked Data
ClinVar Variation Id:
556088
dbSNP Id:
rs1231233910
gnomAD v3:
3-150941724-G-A
gnomAD v4:
3-150941724-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150941724G>A , CM000665.2:g.150941724G>A | GRCh38 |
| NC_000003.11:g.150659511G>A , CM000665.1:g.150659511G>A | GRCh37 |
| NC_000003.10:g.152142201G>A | NCBI36 |
| NG_009168.1:g.36276C>T , LRG_700:g.36276C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.291C>T MANE Select | ENSP00000322280.1:p.Ile97= | |
| ENST00000468836.2:c.439C>T | ENSP00000419892.2:p.Pro147Ser | |
| ENST00000644099.1:c.283C>T | ENSP00000494762.1:n.283C>T | |
| ENST00000295911.6:c.63C>T | ENSP00000295911.2:p.Ile21= | |
| ENST00000327047.5:c.291C>T | ENSP00000322280.1:p.Ile97= | |
| ENST00000328863.8:c.291C>T | ENSP00000329158.4:p.Ile97= | |
| ENST00000468836.1:c.63C>T | ENSP00000419892.1:p.Ile21= | |
| ENST00000472224.1:n.297C>T | ||
| ENST00000485607.1:c.-46C>T | ENSP00000419244.1:n.-46C>T | |
| ENST00000565169.1:c.20C>T | ||
| ENST00000569170.5:c.20C>T | ||
| NM_001195794.1:c.291C>T , LRG_700t1:c.291C>T | NP_001182723.1:p.Ile97= | |
| NM_001256819.1:c.463C>T | NP_001243748.1:p.Pro155Ser | |
| NM_052995.2:c.63C>T , LRG_700t2:c.63C>T | NP_443721.1:p.Ile21= | |
| NM_174878.2:c.291C>T | NP_777367.1:p.Ile97= | |
| NR_046380.2:n.733C>T | ||
| XR_924167.1:n.603C>T | ||
| NM_001256819.2:c.463C>T | NP_001243748.1:p.Pro155Ser | |
| NM_174878.3:c.291C>T MANE Select | NP_777367.1:p.Ile97= | |
| NR_046380.3:n.461C>T |