Linked Data
dbSNP Id:
rs11030919
gnomAD v2:
11-30036154-T-C
gnomAD v3:
11-30014607-T-C
gnomAD v4:
11-30014607-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.30014607T>C , CM000673.2:g.30014607T>C | GRCh38 |
| NC_000011.9:g.30036154T>C , CM000673.1:g.30036154T>C | GRCh37 |
| NC_000011.8:g.29992730T>C | NCBI36 |
| NG_042309.1:g.7424A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328224.7:c.-782-1147A>G MANE Select | ENSP00000328511.6:n.-782-1147A>G | |
| ENST00000328224.6:c.-782-1147A>G | ENSP00000328511.6:n.-782-1147A>G | |
| ENST00000526518.1:n.24-1147A>G | ||
| NM_002233.3:c.-782-1147A>G | NP_002224.1:n.-782-1147A>G | |
| NM_002233.4:c.-782-1147A>G MANE Select | NP_002224.1:n.-782-1147A>G |