Linked Data
dbSNP Id:
rs1023074235
gnomAD v2:
16-2376359-C-G
gnomAD v3:
16-2326358-C-G
gnomAD v4:
16-2326358-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2326358C>G , CM000678.2:g.2326358C>G | GRCh38 |
| NC_000016.9:g.2376359C>G , CM000678.1:g.2376359C>G | GRCh37 |
| NC_000016.8:g.2316360C>G | NCBI36 |
| NG_011790.1:g.19389G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.54+55G>C MANE Select | ENSP00000301732.5:n.54+55G>C | |
| ENST00000301732.9:c.54+55G>C | ENSP00000301732.5:n.54+55G>C | |
| ENST00000382381.7:c.54+55G>C | ENSP00000371818.3:n.54+55G>C | |
| ENST00000563623.5:n.617+55G>C | ||
| ENST00000567910.1:c.54+55G>C | ENSP00000454397.1:n.54+55G>C | |
| NM_001089.2:c.54+55G>C | NP_001080.2:n.54+55G>C | |
| NM_001089.3:c.54+55G>C MANE Select | NP_001080.2:n.54+55G>C |