Linked Data
dbSNP Id:
rs761710090
ExAC:
10:112349619 A / C
gnomAD v2:
10-112349619-A-C
gnomAD v4:
10-110589861-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589861A>C , CM000672.2:g.110589861A>C | GRCh38 |
| NC_000010.10:g.112349619A>C , CM000672.1:g.112349619A>C | GRCh37 |
| NC_000010.9:g.112339609A>C | NCBI36 |
| NG_012217.1:g.27171A>C , LRG_774:g.27171A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1310-31A>C | ||
| ENST00000684988.1:n.2055-31A>C | ||
| ENST00000687823.1:n.1324-31A>C | ||
| ENST00000689932.1:n.3473-31A>C | ||
| ENST00000691297.1:n.1543-31A>C | ||
| ENST00000691527.1:n.2213-31A>C | ||
| ENST00000692792.1:n.1529-31A>C | ||
| ENST00000361804.5:c.1410-31A>C MANE Select | ENSP00000354720.5:n.1410-31A>C | |
| ENST00000361804.4:c.1410-31A>C | ENSP00000354720.4:n.1410-31A>C | |
| NM_005445.3:c.1410-31A>C , LRG_774t1:c.1410-31A>C | NP_005436.1:n.1410-31A>C | |
| NM_005445.4:c.1410-31A>C MANE Select | NP_005436.1:n.1410-31A>C |