Linked Data
ClinVar Variation Id:
410827
ClinVar RCV Id:
RCV000461718
dbSNP Id:
rs745579260
ExAC:
3:93646179 T / G
gnomAD v2:
3-93646179-T-G
gnomAD v4:
3-93927335-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93927335T>G , CM000665.2:g.93927335T>G | GRCh38 |
| NC_000003.11:g.93646179T>G , CM000665.1:g.93646179T>G | GRCh37 |
| NC_000003.10:g.95128869T>G | NCBI36 |
| NG_009813.1:g.51756A>C , LRG_572:g.51756A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348974.5:c.149A>C | ENSP00000330021.7:p.Lys50Thr | |
| ENST00000394236.9:c.149A>C MANE Select | ENSP00000377783.3:p.Lys50Thr | |
| ENST00000407433.6:c.149A>C | ENSP00000385794.2:p.Lys50Thr | |
| ENST00000472684.2:c.-245A>C | ENSP00000419616.2:n.-245A>C | |
| ENST00000647936.1:c.149A>C | ENSP00000496822.1:p.Lys50Thr | |
| ENST00000648381.1:n.317A>C | ||
| ENST00000648853.1:c.107A>C | ENSP00000497262.1:p.Lys36Thr | |
| ENST00000649103.1:c.128A>C | ENSP00000497962.1:p.Lys43Thr | |
| ENST00000650591.1:c.245A>C | ENSP00000497376.1:p.Lys82Thr | |
| ENST00000348974.4:c.245A>C | ENSP00000330021.6:p.Lys82Thr | |
| ENST00000394236.7:c.149A>C | ENSP00000377783.3:p.Lys50Thr | |
| ENST00000407433.5:c.-245A>C | ENSP00000385794.1:n.-245A>C | |
| ENST00000472684.1:c.-245A>C | ENSP00000419616.1:n.-245A>C | |
| NM_000313.3:c.149A>C , LRG_572t1:c.149A>C | NP_000304.2:p.Lys50Thr | |
| NM_001314077.1:c.245A>C , LRG_572t2:c.245A>C | NP_001301006.1:p.Lys82Thr | |
| NM_000313.4:c.149A>C MANE Select | NP_000304.2:p.Lys50Thr | |
| NM_001314077.2:c.245A>C | NP_001301006.1:p.Lys82Thr |