Linked Data
dbSNP Id:
rs2517951
gnomAD v2:
17-37853097-C-T
gnomAD v3:
17-39696844-C-T
gnomAD v4:
17-39696844-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39696844C>T , CM000679.2:g.39696844C>T | GRCh38 |
| NC_000017.10:g.37853097C>T , CM000679.1:g.37853097C>T | GRCh37 |
| NC_000017.9:g.35106623C>T | NCBI36 |
| NG_007503.1:g.13705C>T , LRG_724:g.13705C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406381.6:c.-18+1663C>T | ENSP00000385185.2:n.-18+1663C>T | |
| ENST00000578199.5:c.-18+1663C>T | ENSP00000462808.1:n.-18+1663C>T | |
| ENST00000584601.5:c.-69+1663C>T | ENSP00000462438.1:n.-69+1663C>T | |
| NM_001005862.2:c.-18+1663C>T , LRG_724t1:c.-18+1663C>T | NP_001005862.1:n.-18+1663C>T | |
| NM_001289936.1:c.-24+1663C>T , LRG_724t4:c.-24+1663C>T | NP_001276865.1:n.-24+1663C>T | |
| NM_001289938.1:c.-18+1663C>T , LRG_724t3:c.-18+1663C>T | NP_001276867.1:n.-18+1663C>T | |
| XM_024450642.1:c.-24+1663C>T | XP_024306410.1:n.-24+1663C>T | |
| XM_024450643.1:c.-18+1663C>T | XP_024306411.1:n.-18+1663C>T | |
| NM_001005862.3:c.-18+1663C>T | NP_001005862.1:n.-18+1663C>T | |
| NM_001289936.2:c.-24+1663C>T | NP_001276865.1:n.-24+1663C>T | |
| NM_001289938.2:c.-18+1663C>T | NP_001276867.1:n.-18+1663C>T | |
| NM_001382782.1:c.-18+1663C>T | NP_001369711.1:n.-18+1663C>T |