Linked Data
dbSNP Id:
rs3764913
ExAC:
2:211074909 T / C
gnomAD v2:
2-211074909-T-C
gnomAD v3:
2-210210185-T-C
gnomAD v4:
2-210210185-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210210185T>C , CM000664.2:g.210210185T>C | GRCh38 |
| NC_000002.11:g.211074909T>C , CM000664.1:g.211074909T>C | GRCh37 |
| NC_000002.10:g.210783154T>C | NCBI36 |
| NG_008002.1:g.20307A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233710.4:c.603+11A>G MANE Select | ENSP00000233710.3:n.603+11A>G | |
| ENST00000652584.1:n.831+11A>G | ||
| ENST00000233710.3:c.603+11A>G | ENSP00000233710.3:n.603+11A>G | |
| ENST00000482502.1:n.451A>G | ||
| NM_001608.3:c.603+11A>G | NP_001599.1:n.603+11A>G | |
| XM_005246517.3:c.540+11A>G | XP_005246574.1:n.540+11A>G | |
| XM_005246517.4:c.540+11A>G | XP_005246574.1:n.540+11A>G | |
| XM_017003955.1:c.180+11A>G | XP_016859444.1:n.180+11A>G | |
| NM_001608.4:c.603+11A>G MANE Select | NP_001599.1:n.603+11A>G |