Linked Data
ClinVar Variation Id:
2048405
ClinVar RCV Id:
RCV002931856
dbSNP Id:
rs1319315161
gnomAD v2:
3-150690408-T-A
gnomAD v4:
3-150972621-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972621T>A , CM000665.2:g.150972621T>A | GRCh38 |
| NC_000003.11:g.150690408T>A , CM000665.1:g.150690408T>A | GRCh37 |
| NC_000003.10:g.152173098T>A | NCBI36 |
| NG_009168.1:g.5379A>T , LRG_700:g.5379A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.88A>T MANE Select | ENSP00000322280.1:p.Thr30Ser | |
| ENST00000468836.2:c.64A>T | ENSP00000419892.2:p.Thr22Ser | |
| ENST00000327047.5:c.88A>T | ENSP00000322280.1:p.Thr30Ser | |
| ENST00000328863.8:c.88A>T | ENSP00000329158.4:p.Thr30Ser | |
| ENST00000468836.1:c.-313A>T | ENSP00000419892.1:n.-313A>T | |
| ENST00000472224.1:n.94A>T | ||
| NM_001195794.1:c.88A>T , LRG_700t1:c.88A>T | NP_001182723.1:p.Thr30Ser | |
| NM_001256819.1:c.88A>T | NP_001243748.1:p.Thr30Ser | |
| NM_174878.2:c.88A>T | NP_777367.1:p.Thr30Ser | |
| NR_046380.2:n.379A>T | ||
| XR_924167.1:n.400A>T | ||
| NM_001256819.2:c.88A>T | NP_001243748.1:p.Thr30Ser | |
| NM_174878.3:c.88A>T MANE Select | NP_777367.1:p.Thr30Ser | |
| NR_046380.3:n.107A>T |