Linked Data
ClinVar Variation Id:
2138268
ClinVar RCV Id:
RCV003050535
dbSNP Id:
rs142270619
ExAC:
19:33333161 G / C
gnomAD v2:
19-33333161-G-C
gnomAD v4:
19-32842255-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32842255G>C , CM000681.2:g.32842255G>C | GRCh38 |
| NC_000019.9:g.33333161G>C , CM000681.1:g.33333161G>C | GRCh37 |
| NC_000019.8:g.38025001G>C | NCBI36 |
| NG_008258.1:g.32523C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000023064.9:c.1137C>G MANE Select | ENSP00000023064.3:p.Ser379Arg | |
| ENST00000023064.8:c.1137C>G | ENSP00000023064.3:p.Ser379Arg | |
| ENST00000587772.1:c.1137C>G | ENSP00000468439.1:p.Ser379Arg | |
| ENST00000590341.5:c.1137C>G | ENSP00000464822.1:p.Ser379Arg | |
| ENST00000590465.5:c.*1284C>G | ENSP00000468076.1:n.*1284C>G | |
| ENST00000592232.5:c.*546C>G | ENSP00000465563.1:n.*546C>G | |
| NM_001126335.1:c.1137C>G | NP_001119807.1:p.Ser379Arg | |
| NM_001243036.1:c.1137C>G | NP_001229965.1:p.Ser379Arg | |
| NM_014270.4:c.1137C>G | NP_055085.1:p.Ser379Arg | |
| XM_006722992.1:c.456C>G | XP_006723055.1:p.Ser152Arg | |
| XM_011526402.1:c.1137C>G | XP_011524704.1:p.Ser379Arg | |
| XM_011526402.3:c.1137C>G | XP_011524704.1:p.Ser379Arg | |
| XM_017026230.1:c.873C>G | XP_016881719.1:p.Ser291Arg | |
| XM_024451334.1:c.510C>G | XP_024307102.1:p.Ser170Arg | |
| NM_014270.5:c.1137C>G MANE Select | NP_055085.1:p.Ser379Arg | |
| NM_001126335.2:c.1137C>G | NP_001119807.1:p.Ser379Arg | |
| NM_001243036.2:c.1137C>G | NP_001229965.1:p.Ser379Arg |