Linked Data
dbSNP Id:
rs1187171228
gnomAD v2:
8-14927067-G-A
gnomAD v3:
8-15069558-G-A
gnomAD v4:
8-15069558-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.15069558G>A , CM000670.2:g.15069558G>A | GRCh38 |
| NC_000008.10:g.14927067G>A , CM000670.1:g.14927067G>A | GRCh37 |
| NC_000008.9:g.14971438G>A | NCBI36 |
| NG_008899.1:g.173726C>T , LRG_208:g.173726C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382080.6:c.39+168027C>T MANE Select | ENSP00000371512.1:n.39+168027C>T | |
| ENST00000382080.5:c.39+168027C>T | ENSP00000371512.1:n.39+168027C>T | |
| NM_139167.2:c.39+168027C>T , LRG_208t1:c.39+168027C>T | NP_631906.2:n.39+168027C>T | |
| NM_001322879.1:c.39+168027C>T | NP_001309808.1:n.39+168027C>T | |
| NM_001322880.1:c.39+168027C>T | NP_001309809.1:n.39+168027C>T | |
| NM_001322881.1:c.-90+168027C>T | NP_001309810.1:n.-90+168027C>T | |
| NM_139167.3:c.39+168027C>T | NP_631906.2:n.39+168027C>T | |
| NM_139167.4:c.39+168027C>T MANE Select | NP_631906.2:n.39+168027C>T | |
| NM_001322879.2:c.39+168027C>T | NP_001309808.1:n.39+168027C>T | |
| NM_001322880.2:c.39+168027C>T | NP_001309809.1:n.39+168027C>T | |
| NM_001322881.2:c.-90+168027C>T | NP_001309810.1:n.-90+168027C>T |