Linked Data
dbSNP Id:
rs182743566
gnomAD v2:
1-55509428-G-T
gnomAD v3:
1-55043755-G-T
gnomAD v4:
1-55043755-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55043755G>T , CM000663.2:g.55043755G>T | GRCh38 |
| NC_000001.10:g.55509428G>T , CM000663.1:g.55509428G>T | GRCh37 |
| NC_000001.9:g.55282016G>T | NCBI36 |
| NG_009061.1:g.9209G>T , LRG_275:g.9209G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.208-88G>T | ENSP00000501161.2:n.208-88G>T | |
| ENST00000710286.1:c.565-88G>T | ENSP00000518176.1:n.565-88G>T | |
| ENST00000673726.1:c.208-88G>T | ENSP00000501004.1:n.208-88G>T | |
| ENST00000673903.1:c.-168-88G>T | ENSP00000501257.1:n.-168-88G>T | |
| ENST00000302118.5:c.208-88G>T MANE Select | ENSP00000303208.5:n.208-88G>T | |
| NM_174936.3:c.208-88G>T , LRG_275t1:c.208-88G>T | NP_777596.2:n.208-88G>T | |
| NR_110451.1:n.182+3352G>T | ||
| NM_174936.4:c.208-88G>T MANE Select | NP_777596.2:n.208-88G>T | |
| NR_110451.2:n.182+3352G>T |