Linked Data
dbSNP Id:
rs375342320
ExAC:
17:27778541 A / C
gnomAD v3:
17-29451523-A-C
gnomAD v4:
17-29451523-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29451523A>C , CM000679.2:g.29451523A>C | GRCh38 |
| NC_000017.10:g.27778541A>C , CM000679.1:g.27778541A>C | GRCh37 |
| NC_000017.9:g.24802667A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261716.8:c.-26A>C MANE Select | ENSP00000261716.3:n.-26A>C | |
| ENST00000261716.7:c.-26A>C | ENSP00000261716.3:n.-26A>C | |
| ENST00000536202.1:c.-26A>C | ENSP00000438819.1:n.-26A>C | |
| ENST00000583121.5:c.-26A>C | ENSP00000464562.1:n.-26A>C | |
| ENST00000587277.1:n.169A>C | ||
| NM_020791.2:c.-26A>C | NP_065842.1:n.-26A>C | |
| NM_025142.1:c.-26A>C | NP_079418.1:n.-26A>C | |
| XM_011525060.1:c.-26A>C | XP_011523362.1:n.-26A>C | |
| XM_011525060.2:c.-26A>C | XP_011523362.1:n.-26A>C | |
| NM_020791.4:c.-26A>C MANE Select | NP_065842.1:n.-26A>C |