Linked Data
dbSNP Id:
rs752190321
ExAC:
10:112361781 A / C
gnomAD v2:
10-112361781-A-C
gnomAD v4:
10-110602023-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110602023A>C , CM000672.2:g.110602023A>C | GRCh38 |
| NC_000010.10:g.112361781A>C , CM000672.1:g.112361781A>C | GRCh37 |
| NC_000010.9:g.112351771A>C | NCBI36 |
| NG_012217.1:g.39333A>C , LRG_774:g.39333A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5183A>C | ||
| ENST00000685743.1:n.2658A>C | ||
| ENST00000686057.1:n.1301A>C | ||
| ENST00000689321.1:n.1913A>C | ||
| ENST00000689986.1:n.739A>C | ||
| ENST00000361804.5:c.2950A>C MANE Select | ENSP00000354720.5:p.Lys984Gln | |
| ENST00000361804.4:c.2950A>C | ENSP00000354720.4:p.Lys984Gln | |
| NM_005445.3:c.2950A>C , LRG_774t1:c.2950A>C | NP_005436.1:p.Lys984Gln | |
| NM_005445.4:c.2950A>C MANE Select | NP_005436.1:p.Lys984Gln |