Linked Data
dbSNP Id:
rs770738096
ExAC:
1:55525114 A / C
gnomAD v2:
1-55525114-A-C
gnomAD v4:
1-55059441-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55059441A>C , CM000663.2:g.55059441A>C | GRCh38 |
| NC_000001.10:g.55525114A>C , CM000663.1:g.55525114A>C | GRCh37 |
| NC_000001.9:g.55297702A>C | NCBI36 |
| NG_009061.1:g.24895A>C , LRG_275:g.24895A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1504-45A>C | ENSP00000501161.2:n.1504-45A>C | |
| ENST00000710286.1:c.1861-45A>C | ENSP00000518176.1:n.1861-45A>C | |
| ENST00000673903.1:c.1129-45A>C | ENSP00000501257.1:n.1129-45A>C | |
| ENST00000673913.1:c.244-45A>C | ENSP00000501161.1:n.244-45A>C | |
| ENST00000302118.5:c.1504-45A>C MANE Select | ENSP00000303208.5:n.1504-45A>C | |
| ENST00000490692.1:n.2227+794A>C | ||
| NM_174936.3:c.1504-45A>C , LRG_275t1:c.1504-45A>C | NP_777596.2:n.1504-45A>C | |
| NR_110451.1:n.1111-45A>C | ||
| XM_011541193.1:c.625-45A>C | XP_011539495.1:n.625-45A>C | |
| NM_174936.4:c.1504-45A>C MANE Select | NP_777596.2:n.1504-45A>C | |
| NR_110451.2:n.1111-45A>C |