Linked Data
dbSNP Id:
rs906916689
gnomAD v2:
11-116652467-G-C
gnomAD v3:
11-116781751-G-C
gnomAD v4:
11-116781751-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116781751G>C , CM000673.2:g.116781751G>C | GRCh38 |
| NC_000011.9:g.116652467G>C , CM000673.1:g.116652467G>C | GRCh37 |
| NC_000011.8:g.116157677G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227322.8:c.1179+407C>G MANE Select | ENSP00000227322.3:n.1179+407C>G | |
| ENST00000227322.7:c.1179+407C>G | ENSP00000227322.3:n.1179+407C>G | |
| ENST00000429220.5:c.958+407C>G | ||
| ENST00000444935.5:c.1091+1168C>G | ||
| NM_003904.3:c.1179+407C>G | NP_003895.1:n.1179+407C>G | |
| NM_001317086.1:c.1017+407C>G | NP_001304015.1:n.1017+407C>G | |
| NM_003904.4:c.1179+407C>G | NP_003895.1:n.1179+407C>G | |
| XR_001748023.2:n.2507+407C>G | ||
| NM_003904.5:c.1179+407C>G MANE Select | NP_003895.1:n.1179+407C>G | |
| NM_001317086.2:c.1017+407C>G | NP_001304015.1:n.1017+407C>G |