Linked Data
dbSNP Id:
rs3814058
gnomAD v2:
3-119537291-T-C
gnomAD v3:
3-119818444-T-C
gnomAD v4:
3-119818444-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119818444T>C , CM000665.2:g.119818444T>C | GRCh38 |
| NC_000003.11:g.119537291T>C , CM000665.1:g.119537291T>C | GRCh37 |
| NC_000003.10:g.121019981T>C | NCBI36 |
| NG_011856.1:g.42961T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393716.8:c.*1232T>C MANE Select | ENSP00000377319.3:n.*1232T>C | |
| ENST00000466380.6:c.*1232T>C | ENSP00000420297.2:n.*1232T>C | |
| ENST00000337940.4:c.*1232T>C | ENSP00000336528.4:n.*1232T>C | |
| ENST00000393716.6:c.*1232T>C | ENSP00000377319.2:n.*1232T>C | |
| ENST00000466380.5:c.*1232T>C | ENSP00000420297.1:n.*1232T>C | |
| ENST00000493757.1:n.2669T>C | ||
| NM_003889.3:c.*1232T>C | NP_003880.3:n.*1232T>C | |
| NM_022002.2:c.*1232T>C | NP_071285.1:n.*1232T>C | |
| NM_033013.2:c.*1232T>C | NP_148934.1:n.*1232T>C | |
| NM_003889.4:c.*1232T>C MANE Select | NP_003880.3:n.*1232T>C | |
| NM_022002.3:c.*1232T>C | NP_071285.1:n.*1232T>C | |
| NM_033013.3:c.*1232T>C | NP_148934.1:n.*1232T>C |