Linked Data
dbSNP Id:
rs6757121
gnomAD v2:
2-32449261-C-T
gnomAD v3:
2-32224192-C-T
gnomAD v4:
2-32224192-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32224192C>T , CM000664.2:g.32224192C>T | GRCh38 |
| NC_000002.11:g.32449261C>T , CM000664.1:g.32449261C>T | GRCh37 |
| NC_000002.10:g.32302765C>T | NCBI36 |
| NG_041780.1:g.46552G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282587.9:c.*3479C>T MANE Select | ENSP00000282587.5:n.*3479C>T | |
| NM_001193513.2:c.*3479C>T | NP_001180442.1:n.*3479C>T | |
| NM_001193514.2:c.*3479C>T | NP_001180443.1:n.*3479C>T | |
| NM_001193515.2:c.*3479C>T | NP_001180444.1:n.*3479C>T | |
| NM_001330476.1:c.*3479C>T | NP_001317405.1:n.*3479C>T | |
| NM_001330477.1:c.*3479C>T | NP_001317406.1:n.*3479C>T | |
| NM_001330478.1:c.*3479C>T | NP_001317407.1:n.*3479C>T | |
| NM_001330479.1:c.*3479C>T | NP_001317408.1:n.*3479C>T | |
| NM_017964.4:c.*3479C>T | NP_060434.2:n.*3479C>T | |
| NM_017964.5:c.*3479C>T MANE Select | NP_060434.2:n.*3479C>T | |
| NM_001193513.3:c.*3479C>T | NP_001180442.1:n.*3479C>T | |
| NM_001330476.2:c.*3479C>T | NP_001317405.1:n.*3479C>T | |
| NM_001330477.2:c.*3479C>T | NP_001317406.1:n.*3479C>T | |
| NM_001330478.2:c.*3479C>T | NP_001317407.1:n.*3479C>T | |
| NM_001330479.2:c.*3479C>T | NP_001317408.1:n.*3479C>T | |
| NM_001193514.3:c.*3479C>T | NP_001180443.1:n.*3479C>T | |
| NM_001193515.3:c.*3479C>T | NP_001180444.1:n.*3479C>T |