Linked Data
ClinVar Variation Id:
225438
ClinVar RCV Id:
RCV000490347
dbSNP Id:
rs780579562
ExAC:
2:209191035 C / G
gnomAD v2:
2-209191035-C-G
gnomAD v4:
2-208326311-C-G
PubMed:
PMID:15902656
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208326311C>G , CM000664.2:g.208326311C>G | GRCh38 |
| NC_000002.11:g.209191035C>G , CM000664.1:g.209191035C>G | GRCh37 |
| NC_000002.10:g.208899280C>G | NCBI36 |
| NG_021188.1:g.65045C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264380.9:c.3500C>G MANE Select | ENSP00000264380.4:p.Ser1167Ter | |
| ENST00000264380.8:c.3500C>G | ENSP00000264380.4:p.Ser1167Ter | |
| ENST00000452564.1:c.3332C>G | ENSP00000405736.1:p.Ser1111Ter | |
| NM_015040.3:c.3500C>G | NP_055855.2:p.Ser1167Ter | |
| XM_011510778.1:c.3536C>G | XP_011509080.1:p.Ser1179Ter | |
| XM_011510779.1:c.3536C>G | XP_011509081.1:p.Ser1179Ter | |
| XM_011510780.1:c.3533C>G | XP_011509082.1:p.Ser1178Ter | |
| XM_011510781.1:c.3518C>G | XP_011509083.1:p.Ser1173Ter | |
| XM_011510782.1:c.3536C>G | XP_011509084.1:p.Ser1179Ter | |
| XM_011510783.1:c.3368C>G | XP_011509085.1:p.Ser1123Ter | |
| XM_011510784.1:c.3365C>G | XP_011509086.1:p.Ser1122Ter | |
| XM_011510785.1:c.3350C>G | XP_011509087.1:p.Ser1117Ter | |
| XM_011510786.1:c.3245C>G | XP_011509088.1:p.Ser1082Ter | |
| XM_011510787.1:c.3242C>G | XP_011509089.1:p.Ser1081Ter | |
| XM_011510788.1:c.3209C>G | XP_011509090.1:p.Ser1070Ter | |
| XM_011510789.1:c.3059C>G | XP_011509091.1:p.Ser1020Ter | |
| XM_011510790.1:c.2543C>G | XP_011509092.1:p.Ser848Ter | |
| XM_011510791.1:c.2543C>G | XP_011509093.1:p.Ser848Ter | |
| XM_011510792.1:c.3536C>G | XP_011509094.1:p.Ser1179Ter | |
| XR_922888.1:n.3673C>G | ||
| XM_011510778.3:c.3536C>G | XP_011509080.1:p.Ser1179Ter | |
| XM_011510779.2:c.3536C>G | XP_011509081.1:p.Ser1179Ter | |
| XM_011510780.2:c.3533C>G | XP_011509082.1:p.Ser1178Ter | |
| XM_011510781.3:c.3518C>G | XP_011509083.1:p.Ser1173Ter | |
| XM_011510782.3:c.3536C>G | XP_011509084.1:p.Ser1179Ter | |
| XM_011510783.3:c.3368C>G | XP_011509085.1:p.Ser1123Ter | |
| XM_011510784.2:c.3365C>G | XP_011509086.1:p.Ser1122Ter | |
| XM_011510785.3:c.3350C>G | XP_011509087.1:p.Ser1117Ter | |
| XM_011510786.3:c.3245C>G | XP_011509088.1:p.Ser1082Ter | |
| XM_011510789.2:c.3059C>G | XP_011509091.1:p.Ser1020Ter | |
| XM_011510792.3:c.3536C>G | XP_011509094.1:p.Ser1179Ter | |
| XM_017003568.1:c.3482C>G | XP_016859057.1:p.Ser1161Ter | |
| XM_017003569.1:c.3314C>G | XP_016859058.1:p.Ser1105Ter | |
| XM_017003570.1:c.3041C>G | XP_016859059.1:p.Ser1014Ter | |
| XM_017003571.1:c.2891C>G | XP_016859060.1:p.Ser964Ter | |
| XM_017003572.1:c.2543C>G | XP_016859061.1:p.Ser848Ter | |
| XM_017003573.1:c.2543C>G | XP_016859062.1:p.Ser848Ter | |
| XM_017003574.1:c.2543C>G | XP_016859063.1:p.Ser848Ter | |
| NM_015040.4:c.3500C>G MANE Select | NP_055855.2:p.Ser1167Ter |