Linked Data
dbSNP Id:
rs10114937
gnomAD v2:
9-35271817-C-T
gnomAD v3:
9-35271820-C-T
gnomAD v4:
9-35271820-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35271820C>T , CM000671.2:g.35271820C>T | GRCh38 |
| NC_000009.11:g.35271817C>T , CM000671.1:g.35271817C>T | GRCh37 |
| NC_000009.10:g.35261817C>T | NCBI36 |
| NG_033014.1:g.114829C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000635942.2:c.526+12770C>T MANE Select | ENSP00000490228.1:n.526+12770C>T | |
| ENST00000635942.1:c.526+12770C>T | ENSP00000490228.1:n.526+12770C>T | |
| ENST00000378495.7:c.526+12770C>T | ENSP00000367756.3:n.526+12770C>T | |
| ENST00000378496.8:c.-743+12770C>T | ENSP00000367757.5:n.-743+12770C>T | |
| ENST00000396787.5:c.526+12770C>T | ENSP00000380006.1:n.526+12770C>T | |
| ENST00000617908.4:c.-720+12770C>T | ENSP00000484432.1:n.-720+12770C>T | |
| ENST00000619578.4:c.526+12770C>T | ENSP00000479261.1:n.526+12770C>T | |
| ENST00000634487.1:c.526+12770C>T | ENSP00000489581.1:n.526+12770C>T | |
| NM_006377.3:c.526+12770C>T | NP_006368.3:n.526+12770C>T | |
| XM_011517684.1:c.526+12770C>T | XP_011515986.1:n.526+12770C>T | |
| XM_011517685.1:c.526+12770C>T | XP_011515987.1:n.526+12770C>T | |
| NM_001330653.1:c.526+12770C>T | NP_001317582.1:n.526+12770C>T | |
| XM_011517685.3:c.526+12770C>T | XP_011515987.1:n.526+12770C>T | |
| NM_001330653.2:c.526+12770C>T | NP_001317582.1:n.526+12770C>T | |
| NM_001371186.1:c.526+12770C>T | NP_001358115.1:n.526+12770C>T | |
| NM_001371189.1:c.526+12770C>T | NP_001358118.1:n.526+12770C>T | |
| NM_006377.5:c.526+12770C>T | NP_006368.3:n.526+12770C>T | |
| NM_001330653.3:c.526+12770C>T | NP_001317582.1:n.526+12770C>T | |
| NM_001371186.2:c.526+12770C>T | NP_001358115.1:n.526+12770C>T | |
| NM_001371189.2:c.526+12770C>T MANE Select | NP_001358118.1:n.526+12770C>T | |
| NM_001387551.1:c.526+12770C>T | NP_001374480.1:n.526+12770C>T | |
| NM_001387553.1:c.379+12770C>T | NP_001374482.1:n.379+12770C>T | |
| NM_001387554.1:c.379+12770C>T | NP_001374483.1:n.379+12770C>T | |
| NM_006377.6:c.526+12770C>T | NP_006368.3:n.526+12770C>T | |
| NR_170667.1:n.801+12770C>T |