Linked Data
ClinVar Variation Id:
1363883
dbSNP Id:
rs763077972
ExAC:
1:241667489 G / C
gnomAD v2:
1-241667489-G-C
gnomAD v3:
1-241504189-G-C
gnomAD v4:
1-241504189-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241504189G>C , CM000663.2:g.241504189G>C | GRCh38 |
| NC_000001.10:g.241667489G>C , CM000663.1:g.241667489G>C | GRCh37 |
| NC_000001.9:g.239734112G>C | NCBI36 |
| NG_012338.1:g.20566C>G , LRG_504:g.20566C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1464C>G | ||
| ENST00000682162.1:c.990C>G | ENSP00000508203.1:n.990C>G | |
| ENST00000682567.1:n.1038C>G | ||
| ENST00000683521.1:c.961C>G | ENSP00000506864.1:p.Leu321Val | |
| ENST00000684161.1:n.2176C>G | ||
| ENST00000684483.1:c.*357C>G | ENSP00000507894.1:n.*357C>G | |
| ENST00000366560.4:c.961C>G MANE Select | ENSP00000355518.4:p.Leu321Val | |
| ENST00000366560.3:c.961C>G | ENSP00000355518.3:p.Leu321Val | |
| NM_000143.3:c.961C>G , LRG_504t1:c.961C>G | NP_000134.2:p.Leu321Val | |
| XM_011544132.1:c.733C>G | XP_011542434.1:p.Leu245Val | |
| XM_011544132.2:c.733C>G | XP_011542434.1:p.Leu245Val | |
| NM_000143.4:c.961C>G MANE Select | NP_000134.2:p.Leu321Val |