Linked Data
dbSNP Id:
rs762703060
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110575455A>C , CM000672.2:g.110575455A>C | GRCh38 |
| NC_000010.10:g.112335213A>C , CM000672.1:g.112335213A>C | GRCh37 |
| NC_000010.9:g.112325203A>C | NCBI36 |
| NG_012217.1:g.12765A>C , LRG_774:g.12765A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.331+52A>C | ||
| ENST00000687823.1:n.112+52A>C | ||
| ENST00000689932.1:n.2261+52A>C | ||
| ENST00000691297.1:n.331+52A>C | ||
| ENST00000691527.1:n.288+52A>C | ||
| ENST00000692792.1:n.317+52A>C | ||
| ENST00000361804.5:c.198+52A>C MANE Select | ENSP00000354720.5:n.198+52A>C | |
| ENST00000361804.4:c.198+52A>C | ENSP00000354720.4:n.198+52A>C | |
| ENST00000462899.1:n.344+52A>C | ||
| NM_005445.3:c.198+52A>C , LRG_774t1:c.198+52A>C | NP_005436.1:n.198+52A>C | |
| NM_005445.4:c.198+52A>C MANE Select | NP_005436.1:n.198+52A>C |