Linked Data
dbSNP Id:
rs17047200
gnomAD v2:
4-166929988-A-T
gnomAD v3:
4-166008836-A-T
gnomAD v4:
4-166008836-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.166008836A>T , CM000666.2:g.166008836A>T | GRCh38 |
| NC_000004.11:g.166929988A>T , CM000666.1:g.166929988A>T | GRCh37 |
| NC_000004.10:g.167149438A>T | NCBI36 |
| NG_016278.1:g.140579A>T | |
| NG_016278.2:g.140579A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000061240.7:c.917+788A>T MANE Select | ENSP00000061240.2:n.917+788A>T | |
| ENST00000061240.6:c.917+788A>T | ENSP00000061240.2:n.917+788A>T | |
| ENST00000507499.5:c.917+788A>T | ENSP00000426082.1:n.917+788A>T | |
| ENST00000509505.5:c.*562+788A>T | ENSP00000422692.1:n.*562+788A>T | |
| ENST00000513213.5:c.917+788A>T | ENSP00000422937.1:n.917+788A>T | |
| NM_001204760.1:c.917+788A>T | NP_001191689.1:n.917+788A>T | |
| NM_012464.4:c.917+788A>T | NP_036596.3:n.917+788A>T | |
| XM_011532212.1:c.917+788A>T | XP_011530514.1:n.917+788A>T | |
| XM_011532213.1:c.770+788A>T | XP_011530515.1:n.770+788A>T | |
| XM_011532214.1:c.389+788A>T | XP_011530516.1:n.389+788A>T | |
| XM_017008570.1:c.770+788A>T | XP_016864059.1:n.770+788A>T | |
| XM_024454194.1:c.617+788A>T | XP_024309962.1:n.617+788A>T | |
| XM_024454195.1:c.617+788A>T | XP_024309963.1:n.617+788A>T | |
| NM_012464.5:c.917+788A>T MANE Select | NP_036596.3:n.917+788A>T | |
| NM_001204760.2:c.917+788A>T | NP_001191689.1:n.917+788A>T |