Linked Data
dbSNP Id:
rs576977417
gnomAD v2:
8-14927083-A-G
gnomAD v3:
8-15069574-A-G
gnomAD v4:
8-15069574-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.15069574A>G , CM000670.2:g.15069574A>G | GRCh38 |
| NC_000008.10:g.14927083A>G , CM000670.1:g.14927083A>G | GRCh37 |
| NC_000008.9:g.14971454A>G | NCBI36 |
| NG_008899.1:g.173710T>C , LRG_208:g.173710T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382080.6:c.39+168011T>C MANE Select | ENSP00000371512.1:n.39+168011T>C | |
| ENST00000382080.5:c.39+168011T>C | ENSP00000371512.1:n.39+168011T>C | |
| NM_139167.2:c.39+168011T>C , LRG_208t1:c.39+168011T>C | NP_631906.2:n.39+168011T>C | |
| NM_001322879.1:c.39+168011T>C | NP_001309808.1:n.39+168011T>C | |
| NM_001322880.1:c.39+168011T>C | NP_001309809.1:n.39+168011T>C | |
| NM_001322881.1:c.-90+168011T>C | NP_001309810.1:n.-90+168011T>C | |
| NM_139167.3:c.39+168011T>C | NP_631906.2:n.39+168011T>C | |
| NM_139167.4:c.39+168011T>C MANE Select | NP_631906.2:n.39+168011T>C | |
| NM_001322879.2:c.39+168011T>C | NP_001309808.1:n.39+168011T>C | |
| NM_001322880.2:c.39+168011T>C | NP_001309809.1:n.39+168011T>C | |
| NM_001322881.2:c.-90+168011T>C | NP_001309810.1:n.-90+168011T>C |