Linked Data
ClinVar Variation Id:
7288
ClinVar RCV Id:
RCV000007711
dbSNP Id:
rs2229207
ExAC:
21:34614250 T / C
gnomAD v2:
21-34614250-T-C
gnomAD v3:
21-33241945-T-C
gnomAD v4:
21-33241945-T-C
PubMed:
PMID:16757563
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33241945T>C , CM000683.2:g.33241945T>C | GRCh38 |
| NC_000021.8:g.34614250T>C , CM000683.1:g.34614250T>C | GRCh37 |
| NC_000021.7:g.33536120T>C | NCBI36 |
| NG_016003.1:g.17020T>C | |
| NG_016003.2:g.17020T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433395.7:c.23T>C | ENSP00000388223.3:p.Phe8Ser | |
| ENST00000700427.1:n.233T>C | ||
| ENST00000700429.1:n.257T>C | ||
| ENST00000682009.1:c.23T>C | ENSP00000506919.1:p.Phe8Ser | |
| ENST00000683116.1:c.23T>C | ENSP00000508125.1:p.Phe8Ser | |
| ENST00000683941.1:c.23T>C | ENSP00000508013.1:p.Phe8Ser | |
| ENST00000342136.9:c.23T>C MANE Select | ENSP00000343957.5:p.Phe8Ser | |
| ENST00000646150.1:c.23T>C | ENSP00000496248.1:p.Phe8Ser | |
| ENST00000342101.7:c.23T>C | ENSP00000343289.3:p.Phe8Ser | |
| ENST00000342136.8:c.23T>C | ENSP00000343957.4:p.Phe8Ser | |
| ENST00000382238.6:c.23T>C | ENSP00000371673.2:p.Phe8Ser | |
| ENST00000382264.7:c.23T>C | ENSP00000371699.3:p.Phe8Ser | |
| ENST00000404220.7:c.23T>C | ENSP00000384309.2:p.Phe8Ser | |
| ENST00000413881.5:c.-119-3006T>C | ENSP00000413160.1:n.-119-3006T>C | |
| ENST00000420068.1:n.295T>C | ||
| ENST00000443073.5:c.-119-3006T>C | ENSP00000403569.1:n.-119-3006T>C | |
| ENST00000447980.1:c.95T>C | ENSP00000402311.1:p.Phe32Ser | |
| NM_000874.4:c.23T>C | NP_000865.2:p.Phe8Ser | |
| NM_001289125.1:c.23T>C | NP_001276054.1:p.Phe8Ser | |
| NM_001289126.1:c.23T>C | NP_001276055.1:p.Phe8Ser | |
| NM_001289128.1:c.23T>C | NP_001276057.1:p.Phe8Ser | |
| NM_207584.2:c.23T>C | NP_997467.1:p.Phe8Ser | |
| NM_207585.2:c.23T>C | NP_997468.1:p.Phe8Ser | |
| NM_000874.5:c.23T>C | NP_000865.2:p.Phe8Ser | |
| NM_001289125.3:c.23T>C MANE Select | NP_001276054.1:p.Phe8Ser | |
| NM_207584.3:c.23T>C | NP_997467.1:p.Phe8Ser | |
| NM_001289126.2:c.23T>C | NP_001276055.1:p.Phe8Ser | |
| NM_001289128.2:c.23T>C | NP_001276057.1:p.Phe8Ser | |
| NM_001385054.1:c.23T>C | NP_001371983.1:p.Phe8Ser | |
| NM_001385055.1:c.23T>C | NP_001371984.1:p.Phe8Ser | |
| NM_207585.3:c.23T>C | NP_997468.1:p.Phe8Ser |