Linked Data
dbSNP Id:
rs1249349153
gnomAD v2:
3-150659374-A-C
gnomAD v3:
3-150941587-A-C
gnomAD v4:
3-150941587-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150941587A>C , CM000665.2:g.150941587A>C | GRCh38 |
| NC_000003.11:g.150659374A>C , CM000665.1:g.150659374A>C | GRCh37 |
| NC_000003.10:g.152142064A>C | NCBI36 |
| NG_009168.1:g.36413T>G , LRG_700:g.36413T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.428T>G MANE Select | ENSP00000322280.1:p.Ile143Ser | |
| ENST00000468836.2:c.576T>G | ENSP00000419892.2:n.576T>G | |
| ENST00000644099.1:c.420T>G | ENSP00000494762.1:n.420T>G | |
| ENST00000295911.6:c.200T>G | ENSP00000295911.2:p.Ile67Ser | |
| ENST00000327047.5:c.428T>G | ENSP00000322280.1:p.Ile143Ser | |
| ENST00000328863.8:c.428T>G | ENSP00000329158.4:p.Ile143Ser | |
| ENST00000468836.1:c.200T>G | ENSP00000419892.1:p.Ile67Ser | |
| ENST00000472224.1:n.434T>G | ||
| ENST00000485607.1:c.92T>G | ENSP00000419244.1:p.Ile31Ser | |
| ENST00000562308.5:c.99T>G | ||
| ENST00000565169.1:c.157T>G | ||
| ENST00000569170.5:c.157T>G | ||
| NM_001195794.1:c.428T>G , LRG_700t1:c.428T>G | NP_001182723.1:p.Ile143Ser | |
| NM_001256819.1:c.*42T>G | NP_001243748.1:n.*42T>G | |
| NM_052995.2:c.200T>G , LRG_700t2:c.200T>G | NP_443721.1:p.Ile67Ser | |
| NM_174878.2:c.428T>G | NP_777367.1:p.Ile143Ser | |
| NR_046380.2:n.870T>G | ||
| XR_924167.1:n.740T>G | ||
| NM_001256819.2:c.*42T>G | NP_001243748.1:n.*42T>G | |
| NM_174878.3:c.428T>G MANE Select | NP_777367.1:p.Ile143Ser | |
| NR_046380.3:n.598T>G |