Linked Data
dbSNP Id:
rs758009307
ExAC:
2:73828272 C / T
gnomAD v2:
2-73828272-C-T
gnomAD v3:
2-73601145-C-T
gnomAD v4:
2-73601145-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601145C>T , CM000664.2:g.73601145C>T | GRCh38 |
| NC_000002.11:g.73828272C>T , CM000664.1:g.73828272C>T | GRCh37 |
| NC_000002.10:g.73681780C>T | NCBI36 |
| NG_011690.1:g.220393C>T , LRG_741:g.220393C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11492-50C>T | ENSP00000507671.1:n.11492-50C>T | |
| ENST00000682801.1:c.11167-1040C>T | ENSP00000507862.1:n.11167-1040C>T | |
| ENST00000682859.1:c.11492-50C>T | ENSP00000508222.1:n.11492-50C>T | |
| ENST00000683791.1:c.4578-50C>T | ||
| ENST00000684460.1:c.8773-50C>T | ||
| ENST00000684548.1:c.11492-50C>T | ENSP00000507421.1:n.11492-50C>T | |
| ENST00000684590.1:c.5939-50C>T | ENSP00000507376.1:n.5939-50C>T | |
| ENST00000684656.1:c.8957-50C>T | ||
| ENST00000613296.6:c.11873-50C>T MANE Select | ENSP00000482968.1:n.11873-50C>T | |
| ENST00000651057.1:c.2027-50C>T | ENSP00000498504.1:n.2027-50C>T | |
| ENST00000651434.1:c.3229-50C>T | ||
| ENST00000651750.1:c.1260+264C>T | ||
| ENST00000652487.1:c.3044-50C>T | ||
| ENST00000464408.3:n.48-50C>T | ||
| ENST00000484298.5:c.11747-50C>T | ENSP00000478155.1:n.11747-50C>T | |
| ENST00000613296.4:c.11873-50C>T | ENSP00000482968.1:n.11873-50C>T | |
| ENST00000620466.4:n.5676-50C>T | ||
| NM_015120.4:c.11876-50C>T , LRG_741t1:c.11876-50C>T | NP_055935.4:n.11876-50C>T | |
| NM_001378454.1:c.11873-50C>T MANE Select | NP_001365383.1:n.11873-50C>T |