Linked Data
dbSNP Id:
rs179943
gnomAD v2:
6-16398318-G-A
gnomAD v3:
6-16398087-G-A
gnomAD v4:
6-16398087-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16398087G>A , CM000668.2:g.16398087G>A | GRCh38 |
| NC_000006.11:g.16398318G>A , CM000668.1:g.16398318G>A | GRCh37 |
| NC_000006.10:g.16506297G>A | NCBI36 |
| NG_011571.1:g.368404C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000436367.6:c.-160-69617C>T MANE Select | ENSP00000416360.1:n.-160-69617C>T | |
| ENST00000244769.8:c.-160-69617C>T | ENSP00000244769.3:n.-160-69617C>T | |
| ENST00000436367.5:c.-160-69617C>T | ENSP00000416360.1:n.-160-69617C>T | |
| NM_000332.3:c.-160-69617C>T | NP_000323.2:n.-160-69617C>T | |
| NM_001128164.1:c.-160-69617C>T | NP_001121636.1:n.-160-69617C>T | |
| NM_001357857.1:c.-189-69617C>T | NP_001344786.1:n.-189-69617C>T | |
| NM_001357857.2:c.-189-69617C>T | NP_001344786.1:n.-189-69617C>T | |
| NM_001128164.2:c.-160-69617C>T MANE Select | NP_001121636.1:n.-160-69617C>T | |
| NM_000332.4:c.-160-69617C>T | NP_000323.2:n.-160-69617C>T |