Linked Data
ClinVar Variation Id:
38952
dbSNP Id:
rs146700772
ExAC:
X:153997508 A / C
gnomAD v2:
X-153997508-A-C
gnomAD v3:
X-154769233-A-C
gnomAD v4:
X-154769233-A-C
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154769233A>C , CM000685.2:g.154769233A>C | GRCh38 |
| NC_000023.10:g.153997508A>C , CM000685.1:g.153997508A>C | GRCh37 |
| NC_000023.9:g.153650702A>C | NCBI36 |
| NG_009780.1:g.11478A>C , LRG_55:g.11478A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413910.6:c.718A>C | ENSP00000400542.2:p.Ser240Arg | |
| ENST00000426673.6:c.*221A>C | ENSP00000407253.3:n.*221A>C | |
| ENST00000484317.6:n.623A>C | ||
| ENST00000696575.1:c.838A>C | ENSP00000512730.1:p.Ser280Arg | |
| ENST00000696576.1:n.940A>C | ||
| ENST00000696577.1:c.838A>C | ENSP00000512731.1:p.Ser280Arg | |
| ENST00000696578.1:c.838A>C | ENSP00000512732.1:p.Ser280Arg | |
| ENST00000696579.1:n.940A>C | ||
| ENST00000696580.1:c.751A>C | ENSP00000512733.1:p.Ser251Arg | |
| ENST00000696581.1:c.*812A>C | ENSP00000512734.1:n.*812A>C | |
| ENST00000696582.1:c.*44A>C | ENSP00000512735.1:n.*44A>C | |
| ENST00000696583.1:c.799A>C | ENSP00000512736.1:p.Ser267Arg | |
| ENST00000696584.1:n.1362A>C | ||
| ENST00000696585.1:n.1481A>C | ||
| ENST00000696586.1:n.1255A>C | ||
| ENST00000696587.1:c.718A>C | ENSP00000512737.1:p.Ser240Arg | |
| ENST00000696588.1:c.229A>C | ENSP00000513251.1:p.Ser77Arg | |
| ENST00000696589.1:n.613A>C | ||
| ENST00000696590.1:n.462A>C | ||
| ENST00000696591.1:n.187A>C | ||
| ENST00000696627.1:c.838A>C | ENSP00000512764.1:p.Ser280Arg | |
| ENST00000696628.1:c.838A>C | ENSP00000512765.1:p.Ser280Arg | |
| ENST00000369550.10:c.838A>C MANE Select | ENSP00000358563.5:p.Ser280Arg | |
| ENST00000369550.9:c.838A>C | ENSP00000358563.5:p.Ser280Arg | |
| ENST00000412124.5:c.174-1526A>C | ||
| ENST00000413910.5:c.718A>C | ENSP00000400542.1:p.Ser240Arg | |
| ENST00000426673.5:c.198A>C | ||
| ENST00000475966.1:n.327A>C | ||
| ENST00000484317.5:n.476A>C | ||
| ENST00000620277.4:c.838A>C | ENSP00000478387.1:p.Ser280Arg | |
| NM_001142463.2:c.838A>C | NP_001135935.1:p.Ser280Arg | |
| NM_001288747.1:c.838A>C | NP_001275676.1:p.Ser280Arg | |
| NM_001363.4:c.838A>C | NP_001354.1:p.Ser280Arg | |
| NR_110021.1:n.1539A>C | ||
| NR_110022.1:n.1658A>C | ||
| NR_110023.1:n.1432A>C | ||
| NM_001363.5:c.838A>C MANE Select | NP_001354.1:p.Ser280Arg | |
| NM_001142463.3:c.838A>C | NP_001135935.1:p.Ser280Arg | |
| NR_110021.2:n.1417A>C | ||
| NR_110022.2:n.1536A>C | ||
| NR_110023.2:n.1310A>C | ||
| NM_001288747.2:c.838A>C | NP_001275676.1:p.Ser280Arg |