Linked Data
ClinVar Variation Id:
1609849
ClinVar RCV Id:
RCV002152728
dbSNP Id:
rs1204975430
gnomAD v3:
2-73601259-C-T
gnomAD v4:
2-73601259-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601259C>T , CM000664.2:g.73601259C>T | GRCh38 |
| NC_000002.11:g.73828386C>T , CM000664.1:g.73828386C>T | GRCh37 |
| NC_000002.10:g.73681894C>T | NCBI36 |
| NG_011690.1:g.220507C>T , LRG_741:g.220507C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11556C>T | ENSP00000507671.1:p.Asn3852= | |
| ENST00000682801.1:c.11167-926C>T | ENSP00000507862.1:n.11167-926C>T | |
| ENST00000682859.1:c.11556C>T | ENSP00000508222.1:p.Asn3852= | |
| ENST00000683791.1:c.4642C>T | ||
| ENST00000684460.1:c.8837C>T | ||
| ENST00000684548.1:c.11556C>T | ENSP00000507421.1:p.Asn3852= | |
| ENST00000684590.1:c.6003C>T | ENSP00000507376.1:p.Asn2001= | |
| ENST00000684656.1:c.9021C>T | ||
| ENST00000613296.6:c.11937C>T MANE Select | ENSP00000482968.1:p.Asn3979= | |
| ENST00000651057.1:c.2091C>T | ENSP00000498504.1:p.Asn697= | |
| ENST00000651434.1:c.3293C>T | ||
| ENST00000651750.1:c.1260+378C>T | ||
| ENST00000652487.1:c.3108C>T | ||
| ENST00000464408.3:n.112C>T | ||
| ENST00000484298.5:c.11811C>T | ENSP00000478155.1:p.Asn3937= | |
| ENST00000613296.4:c.11937C>T | ENSP00000482968.1:p.Asn3979= | |
| ENST00000620466.4:n.5740C>T | ||
| NM_015120.4:c.11940C>T , LRG_741t1:c.11940C>T | NP_055935.4:p.Asn3980= | |
| NM_001378454.1:c.11937C>T MANE Select | NP_001365383.1:p.Asn3979= |