Linked Data
ClinVar Variation Id:
1969574
ClinVar RCV Id:
RCV002717255
dbSNP Id:
rs121908141
ExAC:
3:150659443 A / G
gnomAD v2:
3-150659443-A-G
gnomAD v3:
3-150941656-A-G
gnomAD v4:
3-150941656-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150941656A>G , CM000665.2:g.150941656A>G | GRCh38 |
| NC_000003.11:g.150659443A>G , CM000665.1:g.150659443A>G | GRCh37 |
| NC_000003.10:g.152142133A>G | NCBI36 |
| NG_009168.1:g.36344T>C , LRG_700:g.36344T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327047.6:c.359T>C MANE Select | ENSP00000322280.1:p.Met120Thr | |
| ENST00000468836.2:c.507T>C | ENSP00000419892.2:p.His169= | |
| ENST00000644099.1:c.351T>C | ENSP00000494762.1:n.351T>C | |
| ENST00000295911.6:c.131T>C | ENSP00000295911.2:p.Met44Thr | |
| ENST00000327047.5:c.359T>C | ENSP00000322280.1:p.Met120Thr | |
| ENST00000328863.8:c.359T>C | ENSP00000329158.4:p.Met120Thr | |
| ENST00000468836.1:c.131T>C | ENSP00000419892.1:p.Met44Thr | |
| ENST00000472224.1:n.365T>C | ||
| ENST00000485607.1:c.23T>C | ENSP00000419244.1:p.Met8Thr | |
| ENST00000562308.5:c.30T>C | ||
| ENST00000565169.1:c.88T>C | ||
| ENST00000569170.5:c.88T>C | ||
| NM_001195794.1:c.359T>C , LRG_700t1:c.359T>C | NP_001182723.1:p.Met120Thr | |
| NM_001256819.1:c.531T>C | NP_001243748.1:p.His177= | |
| NM_052995.2:c.131T>C , LRG_700t2:c.131T>C | NP_443721.1:p.Met44Thr | |
| NM_174878.2:c.359T>C | NP_777367.1:p.Met120Thr | |
| NR_046380.2:n.801T>C | ||
| XR_924167.1:n.671T>C | ||
| NM_001256819.2:c.531T>C | NP_001243748.1:p.His177= | |
| NM_174878.3:c.359T>C MANE Select | NP_777367.1:p.Met120Thr | |
| NR_046380.3:n.529T>C |