Linked Data
dbSNP Id:
rs9468692
gnomAD v2:
6-30119890-G-A
gnomAD v3:
6-30152113-G-A
gnomAD v4:
6-30152113-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30152113G>A , CM000668.2:g.30152113G>A | GRCh38 |
| NC_000006.11:g.30119890G>A , CM000668.1:g.30119890G>A | GRCh37 |
| NC_000006.10:g.30227869G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000449742.7:c.*1856C>T MANE Select | ENSP00000397073.2:n.*1856C>T | |
| ENST00000376704.3:c.*1575C>T | ENSP00000365894.3:n.*1575C>T | |
| ENST00000449742.6:c.*1856C>T | ENSP00000397073.2:n.*1856C>T | |
| NM_006778.3:c.*1856C>T | NP_006769.2:n.*1856C>T | |
| NM_052828.2:c.*1575C>T | NP_439893.2:n.*1575C>T | |
| XM_011514221.1:c.*1856C>T | XP_011512523.1:n.*1856C>T | |
| XM_011514222.1:c.*1856C>T | XP_011512524.1:n.*1856C>T | |
| XM_011514223.1:c.*1856C>T | XP_011512525.1:n.*1856C>T | |
| XM_011514224.1:c.*1856C>T | XP_011512526.1:n.*1856C>T | |
| XM_011514225.1:c.*1575C>T | XP_011512527.1:n.*1575C>T | |
| XM_011514222.2:c.*1856C>T | XP_011512524.1:n.*1856C>T | |
| XM_011514223.2:c.*1856C>T | XP_011512525.1:n.*1856C>T | |
| NM_006778.4:c.*1856C>T MANE Select | NP_006769.2:n.*1856C>T | |
| NM_052828.3:c.*1575C>T | NP_439893.2:n.*1575C>T |