Linked Data
dbSNP Id:
rs535034037
gnomAD v2:
3-93592720-G-A
gnomAD v3:
3-93873876-G-A
gnomAD v4:
3-93873876-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93873876G>A , CM000665.2:g.93873876G>A | GRCh38 |
| NC_000003.11:g.93592720G>A , CM000665.1:g.93592720G>A | GRCh37 |
| NC_000003.10:g.95075410G>A | NCBI36 |
| NG_009813.1:g.105215C>T , LRG_572:g.105215C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.*1+368C>T | ENSP00000330021.7:n.*1+368C>T | |
| ENST00000394236.9:c.*369C>T MANE Select | ENSP00000377783.3:n.*369C>T | |
| ENST00000407433.6:c.*369C>T | ENSP00000385794.2:n.*369C>T | |
| ENST00000647936.1:c.*503C>T | ENSP00000496822.1:n.*503C>T | |
| ENST00000648381.1:n.2568C>T | ||
| ENST00000648853.1:c.*369C>T | ENSP00000497262.1:n.*369C>T | |
| ENST00000650591.1:c.*369C>T | ENSP00000497376.1:n.*369C>T | |
| ENST00000394236.7:c.*369C>T | ENSP00000377783.3:n.*369C>T | |
| ENST00000407433.5:c.*369C>T | ENSP00000385794.1:n.*369C>T | |
| NM_000313.3:c.*369C>T , LRG_572t1:c.*369C>T | NP_000304.2:n.*369C>T | |
| NM_001314077.1:c.*369C>T , LRG_572t2:c.*369C>T | NP_001301006.1:n.*369C>T | |
| NM_000313.4:c.*369C>T MANE Select | NP_000304.2:n.*369C>T | |
| NM_001314077.2:c.*369C>T | NP_001301006.1:n.*369C>T |