Linked Data
ClinVar Variation Id:
1339127
ClinVar RCV Id:
RCV001823581
dbSNP Id:
rs1181901214
gnomAD v2:
9-75441785-T-G
gnomAD v4:
9-72826869-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72826869T>G , CM000671.2:g.72826869T>G | GRCh38 |
| NC_000009.11:g.75441785T>G , CM000671.1:g.75441785T>G | GRCh37 |
| NC_000009.10:g.74631605T>G | NCBI36 |
| NG_008213.1:g.310069T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.2004T>G MANE Select | ENSP00000297784.6:p.Ser668Arg | |
| ENST00000644967.1:c.*444T>G | ENSP00000496159.1:n.*444T>G | |
| ENST00000645053.1:c.1258T>G | ENSP00000493838.1:p.Trp420Gly | |
| ENST00000645208.2:c.2004T>G | ENSP00000494684.1:p.Ser668Arg | |
| ENST00000645773.1:c.1878T>G | ENSP00000493698.1:p.Ser626Arg | |
| ENST00000645787.1:n.2147T>G | ||
| ENST00000646619.1:c.1566T>G | ENSP00000493726.1:p.Ser522Arg | |
| ENST00000651183.1:c.1566T>G | ENSP00000498723.1:p.Ser522Arg | |
| ENST00000297784.9:c.2004T>G | ENSP00000297784.5:p.Ser668Arg | |
| ENST00000340019.4:c.2004T>G | ENSP00000341433.3:p.Ser668Arg | |
| ENST00000469455.1:n.485T>G | ||
| ENST00000486417.5:n.902T>G | ||
| NM_138691.2:c.2004T>G | NP_619636.2:p.Ser668Arg | |
| XM_011518213.1:c.2592T>G | XP_011516515.1:p.Ser864Arg | |
| XM_017014256.1:c.2007T>G | XP_016869745.1:p.Ser669Arg | |
| NM_138691.3:c.2004T>G MANE Select | NP_619636.2:p.Ser668Arg |