Linked Data
dbSNP Id:
rs1210193460
gnomAD v2:
1-55525134-T-A
gnomAD v3:
1-55059461-T-A
gnomAD v4:
1-55059461-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55059461T>A , CM000663.2:g.55059461T>A | GRCh38 |
| NC_000001.10:g.55525134T>A , CM000663.1:g.55525134T>A | GRCh37 |
| NC_000001.9:g.55297722T>A | NCBI36 |
| NG_009061.1:g.24915T>A , LRG_275:g.24915T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1504-25T>A | ENSP00000501161.2:n.1504-25T>A | |
| ENST00000710286.1:c.1861-25T>A | ENSP00000518176.1:n.1861-25T>A | |
| ENST00000673903.1:c.1129-25T>A | ENSP00000501257.1:n.1129-25T>A | |
| ENST00000673913.1:c.244-25T>A | ENSP00000501161.1:n.244-25T>A | |
| ENST00000302118.5:c.1504-25T>A MANE Select | ENSP00000303208.5:n.1504-25T>A | |
| ENST00000490692.1:n.2227+814T>A | ||
| NM_174936.3:c.1504-25T>A , LRG_275t1:c.1504-25T>A | NP_777596.2:n.1504-25T>A | |
| NR_110451.1:n.1111-25T>A | ||
| XM_011541193.1:c.625-25T>A | XP_011539495.1:n.625-25T>A | |
| NM_174936.4:c.1504-25T>A MANE Select | NP_777596.2:n.1504-25T>A | |
| NR_110451.2:n.1111-25T>A |