Linked Data
dbSNP Id:
rs13409348
gnomAD v2:
2-79539988-G-C
gnomAD v3:
2-79312862-G-C
gnomAD v4:
2-79312862-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.79312862G>C , CM000664.2:g.79312862G>C | GRCh38 |
| NC_000002.11:g.79539988G>C , CM000664.1:g.79539988G>C | GRCh37 |
| NC_000002.10:g.79393496G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000466387.5:c.-318+66G>C | ENSP00000418191.1:n.-318+66G>C | |
| ENST00000467488.1:n.390+66G>C | ||
| ENST00000496251.5:n.160+66G>C | ||
| ENST00000497804.1:n.87+66G>C | ||
| XR_001739553.1:n.390+66G>C | ||
| XR_001739554.1:n.390+66G>C | ||
| XR_001739555.1:n.390+66G>C | ||
| XR_001739556.1:n.390+66G>C | ||
| XR_001739557.1:n.390+66G>C | ||
| XR_001739558.1:n.375+66G>C | ||
| XR_001739559.1:n.372+66G>C | ||
| XR_001739560.1:n.372+66G>C | ||
| XR_001739561.2:n.560+66G>C | ||
| NM_001399737.1:c.-318+66G>C | NP_001386666.1:n.-318+66G>C |