Linked Data
ClinVar Variation Id:
10476
ClinVar RCV Id:
RCV000011222
dbSNP Id:
rs137852306
PubMed:
PMID:10444183
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55009242T>C , CM000685.2:g.55009242T>C | GRCh38 |
| NC_000023.10:g.55035675T>C , CM000685.1:g.55035675T>C | GRCh37 |
| NC_000023.9:g.55052400T>C | NCBI36 |
| NG_008983.1:g.26823A>G | |
| NG_012568.1:g.13896T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650242.1:c.1702A>G MANE Select | ENSP00000497236.1:p.Ser568Gly | |
| ENST00000330807.9:c.1702A>G | ENSP00000332369.5:p.Ser568Gly | |
| ENST00000335854.8:c.1591A>G | ENSP00000337131.4:p.Ser531Gly | |
| ENST00000396198.7:c.1663A>G | ENSP00000379501.3:p.Ser555Gly | |
| ENST00000498636.1:n.830A>G | ||
| NM_000032.4:c.1702A>G | NP_000023.2:p.Ser568Gly | |
| NM_001037967.3:c.1591A>G | NP_001033056.1:p.Ser531Gly | |
| NM_001037968.3:c.1663A>G | NP_001033057.1:p.Ser555Gly | |
| XM_005261995.2:c.1774A>G | XP_005262052.1:p.Ser592Gly | |
| XM_011530771.1:c.841A>G | XP_011529073.1:p.Ser281Gly | |
| NM_000032.5:c.1702A>G MANE Select | NP_000023.2:p.Ser568Gly | |
| NM_001037967.4:c.1591A>G | NP_001033056.1:p.Ser531Gly | |
| NM_001037968.4:c.1663A>G | NP_001033057.1:p.Ser555Gly |