Linked Data
ClinVar Variation Id:
338489
dbSNP Id:
rs770250175
gnomAD v2:
20-43061297-C-T
gnomAD v3:
20-44432657-C-T
gnomAD v4:
20-44432657-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44432657C>T , CM000682.2:g.44432657C>T | GRCh38 |
| NC_000020.10:g.43061297C>T , CM000682.1:g.43061297C>T | GRCh37 |
| NC_000020.9:g.42494711C>T | NCBI36 |
| NG_009818.1:g.81857C>T , LRG_483:g.81857C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.*2992C>T MANE Select | ENSP00000315180.4:n.*2992C>T | |
| ENST00000316099.10:c.*2992C>T | ENSP00000312987.3:n.*2992C>T | |
| ENST00000316099.9:c.*2992C>T | ENSP00000312987.3:n.*2992C>T | |
| ENST00000316099.8:c.*2992C>T | ENSP00000312987.3:n.*2992C>T | |
| ENST00000619550.4:c.*2992C>T | ENSP00000481331.1:n.*2992C>T | |
| NM_000457.4:c.*2992C>T , LRG_483t2:c.*2992C>T | NP_000448.3:n.*2992C>T | |
| NM_001030003.2:c.*2992C>T | NP_001025174.1:n.*2992C>T | |
| NM_001258355.1:c.*2992C>T | NP_001245284.1:n.*2992C>T | |
| NM_001287182.1:c.*2992C>T | NP_001274111.1:n.*2992C>T | |
| NM_001287183.1:c.*2992C>T , LRG_483t3:c.*2992C>T | NP_001274112.1:n.*2992C>T | |
| NM_175914.4:c.*2992C>T , LRG_483t1:c.*2992C>T | NP_787110.2:n.*2992C>T | |
| NM_178849.2:c.*2992C>T | NP_849180.1:n.*2992C>T | |
| XM_005260407.2:c.*2992C>T | XP_005260464.1:n.*2992C>T | |
| XM_011528797.1:c.*2992C>T | XP_011527099.1:n.*2992C>T | |
| XM_011528798.1:c.*2992C>T | XP_011527100.1:n.*2992C>T | |
| XM_005260407.4:c.*2992C>T | XP_005260464.1:n.*2992C>T | |
| NM_001030003.3:c.*2992C>T | NP_001025174.1:n.*2992C>T | |
| NM_001258355.2:c.*2992C>T | NP_001245284.1:n.*2992C>T | |
| NM_001287182.2:c.*2992C>T | NP_001274111.1:n.*2992C>T | |
| NM_178849.3:c.*2992C>T | NP_849180.1:n.*2992C>T | |
| NM_000457.5:c.*2992C>T | NP_000448.3:n.*2992C>T | |
| NM_000457.6:c.*2992C>T | NP_000448.3:n.*2992C>T | |
| NM_001287183.2:c.*2992C>T | NP_001274112.1:n.*2992C>T | |
| NM_175914.5:c.*2992C>T MANE Select | NP_787110.2:n.*2992C>T |