Linked Data
dbSNP Id:
rs1200807448
gnomAD v2:
11-47358908-G-C
gnomAD v3:
11-47337357-G-C
gnomAD v4:
11-47337357-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47337357G>C , CM000673.2:g.47337357G>C | GRCh38 |
| NC_000011.9:g.47358908G>C , CM000673.1:g.47358908G>C | GRCh37 |
| NC_000011.8:g.47315484G>C | NCBI36 |
| NG_007667.1:g.20346C>G , LRG_386:g.20346C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.2602+34C>G MANE Select | ENSP00000442795.1:n.2602+34C>G | |
| ENST00000256993.8:c.2602+34C>G | ENSP00000256993.5:n.2602+34C>G | |
| ENST00000399249.6:c.2602+34C>G | ENSP00000382193.2:n.2602+34C>G | |
| ENST00000544791.1:c.*107+34C>G | ENSP00000444259.1:n.*107+34C>G | |
| ENST00000545968.5:c.2602+34C>G | ENSP00000442795.1:n.2602+34C>G | |
| NM_000256.3:c.2602+34C>G , LRG_386t1:c.2602+34C>G MANE Select | NP_000247.2:n.2602+34C>G | |
| XM_011520117.1:c.2584+34C>G | XP_011518419.1:n.2584+34C>G | |
| XM_011520118.1:c.2521+34C>G | XP_011518420.1:n.2521+34C>G |