Linked Data
dbSNP Id:
rs11664027
gnomAD v2:
18-807368-T-G
gnomAD v3:
18-807367-T-G
gnomAD v4:
18-807367-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.807367T>G , CM000680.2:g.807367T>G | GRCh38 |
| NC_000018.9:g.807368T>G , CM000680.1:g.807368T>G | GRCh37 |
| NC_000018.8:g.797368T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314574.5:c.-9+4747A>C MANE Select | ENSP00000324740.4:n.-9+4747A>C | |
| ENST00000314574.4:c.-9+4747A>C | ENSP00000324740.4:n.-9+4747A>C | |
| ENST00000577611.1:n.153+4747A>C | ||
| ENST00000581960.1:n.244+4747A>C | ||
| ENST00000584307.5:c.-9+5017A>C | ENSP00000462468.1:n.-9+5017A>C | |
| NM_005433.3:c.-9+4747A>C | NP_005424.1:n.-9+4747A>C | |
| XM_005258139.2:c.-9+4747A>C | XP_005258196.1:n.-9+4747A>C | |
| XM_011525736.1:c.-64+4747A>C | XP_011524038.1:n.-64+4747A>C | |
| XM_005258139.4:c.-9+4747A>C | XP_005258196.1:n.-9+4747A>C | |
| XM_024451243.1:c.-9+5017A>C | XP_024307011.1:n.-9+5017A>C | |
| XM_024451244.1:c.-9+5303A>C | XP_024307012.1:n.-9+5303A>C | |
| XM_024451246.1:c.-9+5041A>C | XP_024307014.1:n.-9+5041A>C | |
| XM_024451247.1:c.-9+5017A>C | XP_024307015.1:n.-9+5017A>C | |
| NM_005433.4:c.-9+4747A>C MANE Select | NP_005424.1:n.-9+4747A>C |