Linked Data
dbSNP Id:
rs188025186
gnomAD v2:
5-23509072-A-C
gnomAD v3:
5-23508963-A-C
gnomAD v4:
5-23508963-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.23508963A>C , CM000667.2:g.23508963A>C | GRCh38 |
| NC_000005.9:g.23509072A>C , CM000667.1:g.23509072A>C | GRCh37 |
| NC_000005.8:g.23544829A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502755.6:c.-71A>C | ENSP00000425471.2:n.-71A>C | |
| ENST00000296682.4:c.-71A>C MANE Select | ENSP00000296682.4:n.-71A>C | |
| ENST00000296682.3:c.-71A>C | ENSP00000296682.3:n.-71A>C | |
| ENST00000502755.5:c.-71A>C | ENSP00000425471.1:n.-71A>C | |
| ENST00000635252.1:c.17-957A>C | ENSP00000489227.1:n.17-957A>C | |
| NM_020227.2:c.-71A>C | NP_064612.2:n.-71A>C | |
| NM_020227.3:c.-71A>C | NP_064612.2:n.-71A>C | |
| NM_001376900.1:c.-71A>C | NP_001363829.1:n.-71A>C | |
| NM_020227.4:c.-71A>C MANE Select | NP_064612.2:n.-71A>C |