Linked Data
dbSNP Id:
rs1266993680
gnomAD v2:
11-20805451-T-C
gnomAD v3:
11-20783905-T-C
gnomAD v4:
11-20783905-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20783905T>C , CM000673.2:g.20783905T>C | GRCh38 |
| NC_000011.9:g.20805451T>C , CM000673.1:g.20805451T>C | GRCh37 |
| NC_000011.8:g.20762027T>C | NCBI36 |
| NG_047064.1:g.119355T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357134.10:c.335+75T>C MANE Select | ENSP00000349654.5:n.335+75T>C | |
| ENST00000298925.9:c.419+75T>C | ENSP00000298925.5:n.419+75T>C | |
| ENST00000325319.9:c.335+75T>C | ENSP00000317837.5:n.335+75T>C | |
| ENST00000357134.9:c.335+75T>C | ENSP00000349654.5:n.335+75T>C | |
| ENST00000524738.1:n.162+75T>C | ||
| ENST00000527873.5:n.356+75T>C | ||
| ENST00000528046.5:n.518+75T>C | ||
| ENST00000529595.1:n.223+75T>C | ||
| ENST00000532434.5:c.335+75T>C | ENSP00000437170.1:n.335+75T>C | |
| ENST00000619031.4:c.-378+75T>C | ENSP00000479479.1:n.-378+75T>C | |
| NM_001288713.1:c.419+75T>C | NP_001275642.1:n.419+75T>C | |
| NM_001288714.1:c.335+75T>C | NP_001275643.1:n.335+75T>C | |
| NM_006157.4:c.335+75T>C | NP_006148.2:n.335+75T>C | |
| NM_201551.2:c.335+75T>C | NP_963845.1:n.335+75T>C | |
| NM_006157.5:c.335+75T>C MANE Select | NP_006148.2:n.335+75T>C |