Linked Data
dbSNP Id:
rs751830707
gnomAD v2:
7-100771623-C-T
gnomAD v3:
7-101128342-C-T
gnomAD v4:
7-101128342-C-T
COSMIC:
COSN20966497
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101128342C>T , CM000669.2:g.101128342C>T | GRCh38 |
| NC_000007.13:g.100771623C>T , CM000669.1:g.100771623C>T | GRCh37 |
| NC_000007.12:g.100558343C>T | NCBI36 |
| NG_013213.1:g.6245C>T , LRG_597:g.6245C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223095.5:c.-1-51C>T MANE Select | ENSP00000223095.4:n.-1-51C>T | |
| ENST00000223095.4:c.-1-51C>T | ENSP00000223095.4:n.-1-51C>T | |
| NM_000602.4:c.-1-51C>T , LRG_597t1:c.-1-51C>T | NP_000593.1:n.-1-51C>T | |
| NM_000602.5:c.-1-51C>T MANE Select | NP_000593.1:n.-1-51C>T | |
| NM_001386456.1:c.-32-272C>T | NP_001373385.1:n.-32-272C>T | |
| NM_001386457.1:c.-1-51C>T | NP_001373386.1:n.-1-51C>T | |
| NM_001386458.1:c.-1-51C>T | NP_001373387.1:n.-1-51C>T | |
| NM_001386459.1:c.-1-51C>T | NP_001373388.1:n.-1-51C>T | |
| NM_001386460.1:c.-1-51C>T | NP_001373389.1:n.-1-51C>T | |
| NM_001386461.1:c.-1-51C>T | NP_001373390.1:n.-1-51C>T | |
| NM_001386462.1:c.-69-184C>T | NP_001373391.1:n.-69-184C>T | |
| NM_001386463.1:c.1-58C>T | NP_001373392.1:n.1-58C>T | |
| NM_001386464.1:c.-1-51C>T | NP_001373393.1:n.-1-51C>T | |
| NM_001386465.1:c.-1-51C>T | NP_001373394.1:n.-1-51C>T | |
| NM_001386466.1:c.-1-51C>T | NP_001373395.1:n.-1-51C>T |