Linked Data
ClinVar Variation Id:
139538
ClinVar RCV Id:
RCV000128437
dbSNP Id:
rs886037666
PubMed:
PMID:24814191
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62634825G>C , CM000663.2:g.62634825G>C | GRCh38 |
| NC_000001.10:g.63100496G>C , CM000663.1:g.63100496G>C | GRCh37 |
| NC_000001.9:g.62873084G>C | NCBI36 |
| NG_033073.1:g.58544C>G | |
| NG_033073.2:g.58544C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614472.5:c.653C>G | ENSP00000483062.2:p.Ser218Ter | |
| ENST00000635253.2:c.983C>G MANE Select | ENSP00000489124.1:p.Ser328Ter | |
| ENST00000635827.1:c.921C>G | ||
| ENST00000637208.1:c.983C>G | ENSP00000490079.1:p.Ser328Ter | |
| ENST00000251157.10:c.983C>G | ENSP00000251157.6:p.Ser328Ter | |
| ENST00000340370.10:c.983C>G | ENSP00000340742.5:p.Ser328Ter | |
| ENST00000404627.3:c.983C>G | ENSP00000384446.2:p.Ser328Ter | |
| ENST00000454575.6:c.983C>G | ENSP00000413583.2:p.Ser328Ter | |
| ENST00000614472.4:c.659C>G | ENSP00000483062.1:p.Ser220Ter | |
| ENST00000634264.1:c.983C>G | ENSP00000489284.1:p.Ser328Ter | |
| ENST00000634912.1:n.867C>G | ||
| ENST00000635123.1:c.983C>G | ENSP00000489499.1:p.Ser328Ter | |
| ENST00000635253.1:c.983C>G | ENSP00000489124.1:p.Ser328Ter | |
| NM_001271999.1:c.983C>G | NP_001258928.1:p.Ser328Ter | |
| NM_001272000.1:c.983C>G | NP_001258929.1:p.Ser328Ter | |
| NM_001272001.1:c.983C>G | NP_001258930.1:p.Ser328Ter | |
| NM_001272002.1:c.983C>G | NP_001258931.1:p.Ser328Ter | |
| NM_033407.3:c.983C>G | NP_212132.2:p.Ser328Ter | |
| XM_005271292.1:c.983C>G | XP_005271349.1:p.Ser328Ter | |
| XM_011542326.1:c.983C>G | XP_011540628.1:p.Ser328Ter | |
| XM_011542327.1:c.983C>G | XP_011540629.1:p.Ser328Ter | |
| XM_011542328.1:c.983C>G | XP_011540630.1:p.Ser328Ter | |
| XM_011542329.1:c.983C>G | XP_011540631.1:p.Ser328Ter | |
| XM_011542330.1:c.983C>G | XP_011540632.1:p.Ser328Ter | |
| NM_001330614.1:c.983C>G | NP_001317543.1:p.Ser328Ter | |
| XM_011542326.2:c.983C>G | XP_011540628.1:p.Ser328Ter | |
| XM_011542327.2:c.983C>G | XP_011540629.1:p.Ser328Ter | |
| XM_011542328.2:c.983C>G | XP_011540630.1:p.Ser328Ter | |
| XM_011542330.2:c.983C>G | XP_011540632.1:p.Ser328Ter | |
| XM_017002639.1:c.983C>G | XP_016858128.1:p.Ser328Ter | |
| XM_017002640.1:c.983C>G | XP_016858129.1:p.Ser328Ter | |
| NM_001367561.1:c.983C>G MANE Select | NP_001354490.1:p.Ser328Ter | |
| NM_001272002.2:c.983C>G | NP_001258931.1:p.Ser328Ter | |
| NM_001271999.2:c.983C>G | NP_001258928.1:p.Ser328Ter | |
| NM_001272000.2:c.983C>G | NP_001258929.1:p.Ser328Ter | |
| NM_001272001.2:c.983C>G | NP_001258930.1:p.Ser328Ter | |
| NM_001330614.2:c.983C>G | NP_001317543.1:p.Ser328Ter | |
| NM_033407.4:c.983C>G | NP_212132.2:p.Ser328Ter |