Linked Data
dbSNP Id:
rs550129922
gnomAD v2:
16-56870438-G-T
gnomAD v3:
16-56836526-G-T
gnomAD v4:
16-56836526-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56836526G>T , CM000678.2:g.56836526G>T | GRCh38 |
| NC_000016.9:g.56870438G>T , CM000678.1:g.56870438G>T | GRCh37 |
| NC_000016.8:g.55427939G>T | NCBI36 |
| NG_052904.1:g.111422G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308159.10:c.1783-75G>T MANE Select | ENSP00000310668.5:n.1783-75G>T | |
| ENST00000308159.9:c.1783-75G>T | ENSP00000310668.5:n.1783-75G>T | |
| ENST00000542526.5:c.1414-75G>T | ENSP00000440235.1:n.1414-75G>T | |
| ENST00000564887.5:c.1414-75G>T | ENSP00000458039.1:n.1414-75G>T | |
| ENST00000569842.5:c.1783-75G>T | ENSP00000458101.1:n.1783-75G>T | |
| NM_001242795.1:c.1414-75G>T | NP_001229724.1:n.1414-75G>T | |
| NM_001242796.1:c.1414-75G>T | NP_001229725.1:n.1414-75G>T | |
| NM_014669.4:c.1783-75G>T | NP_055484.3:n.1783-75G>T | |
| XM_005256263.2:c.1783-75G>T | XP_005256320.1:n.1783-75G>T | |
| NM_001242796.2:c.1414-75G>T | NP_001229725.1:n.1414-75G>T | |
| XM_005256263.3:c.1783-75G>T | XP_005256320.1:n.1783-75G>T | |
| NM_014669.5:c.1783-75G>T MANE Select | NP_055484.3:n.1783-75G>T | |
| NM_001242795.2:c.1414-75G>T | NP_001229724.1:n.1414-75G>T |