Linked Data
dbSNP Id:
rs773646545
ExAC:
11:88911944 A / C
gnomAD v2:
11-88911944-A-C
gnomAD v4:
11-89178776-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178776A>C , CM000673.2:g.89178776A>C | GRCh38 |
| NC_000011.9:g.88911944A>C , CM000673.1:g.88911944A>C | GRCh37 |
| NC_000011.8:g.88551592A>C | NCBI36 |
| NG_008748.1:g.5905A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.819+4A>C MANE Select | ENSP00000263321.4:n.819+4A>C | |
| ENST00000263321.5:c.819+4A>C | ENSP00000263321.4:n.819+4A>C | |
| ENST00000526139.1:n.880+4A>C | ||
| NM_000372.4:c.819+4A>C | NP_000363.1:n.819+4A>C | |
| XM_011542970.1:c.819+4A>C | XP_011541272.1:n.819+4A>C | |
| XM_011542970.2:c.819+4A>C | XP_011541272.1:n.819+4A>C | |
| XR_001748321.1:n.2718-65243T>G | ||
| XR_001748322.1:n.2733-65243T>G | ||
| NM_000372.5:c.819+4A>C MANE Select | NP_000363.1:n.819+4A>C |