Linked Data
ClinVar Variation Id:
55816
ClinVar RCV Id:
RCV000049241
dbSNP Id:
rs587776993
gnomAD v3:
3-69004378-C-G
gnomAD v4:
3-69004378-C-G
PubMed:
PMID:23522784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69004378C>G , CM000665.2:g.69004378C>G | GRCh38 |
| NC_000003.11:g.69053529C>G , CM000665.1:g.69053529C>G | GRCh37 |
| NC_000003.10:g.69136219C>G | NCBI36 |
| NG_042829.1:g.14517G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000383701.8:c.620G>C MANE Select | ENSP00000373206.3:p.Trp207Ser | |
| ENST00000295571.9:c.620G>C | ENSP00000295571.5:p.Trp207Ser | |
| ENST00000383701.7:c.620G>C | ENSP00000373206.3:p.Trp207Ser | |
| ENST00000403140.6:c.620G>C | ENSP00000384124.2:p.Ter207Ser | |
| ENST00000540764.5:c.620G>C | ENSP00000443780.2:p.Trp207Ser | |
| ENST00000540955.5:c.620G>C | ENSP00000444264.2:p.Trp207Ser | |
| NM_001278689.1:c.620G>C | NP_001265618.1:p.Trp207Ser | |
| NM_173654.2:c.620G>C | NP_775925.1:p.Trp207Ser | |
| NR_103826.1:n.1296G>C | ||
| XM_005264743.2:c.620G>C | XP_005264800.1:p.Trp207Ser | |
| XM_011533599.1:c.620G>C | XP_011531901.1:p.Trp207Ser | |
| XM_011533600.1:c.620G>C | XP_011531902.1:p.Trp207Ser | |
| XM_011533601.1:c.620G>C | XP_011531903.1:p.Trp207Ser | |
| XM_011533602.1:c.620G>C | XP_011531904.1:p.Trp207Ser | |
| XM_011533603.1:c.620G>C | XP_011531905.1:p.Trp207Ser | |
| XM_011533604.1:c.620G>C | XP_011531906.1:p.Trp207Ser | |
| XM_011533605.1:c.620G>C | XP_011531907.1:p.Trp207Ser | |
| XM_017006204.1:c.620G>C | XP_016861693.1:p.Trp207Ser | |
| XM_017006205.1:c.620G>C | XP_016861694.1:p.Trp207Ser | |
| XM_017006206.1:c.620G>C | XP_016861695.1:p.Trp207Ser | |
| XM_017006207.1:c.-9G>C | XP_016861696.1:n.-9G>C | |
| XM_017006208.1:c.620G>C | XP_016861697.1:p.Trp207Ser | |
| NM_001278689.2:c.620G>C MANE Select | NP_001265618.1:p.Trp207Ser | |
| NM_173654.3:c.620G>C | NP_775925.1:p.Trp207Ser | |
| NR_103826.2:n.1086G>C |