Linked Data
dbSNP Id:
rs148763909
gnomAD v2:
5-153837106-C-T
gnomAD v3:
5-154457546-C-T
gnomAD v4:
5-154457546-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.154457546C>T , CM000667.2:g.154457546C>T | GRCh38 |
| NC_000005.9:g.153837106C>T , CM000667.1:g.153837106C>T | GRCh37 |
| NC_000005.8:g.153817299C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297109.11:c.*1518C>T MANE Select | ENSP00000297109.5:n.*1518C>T | |
| ENST00000297109.10:c.*1518C>T | ENSP00000297109.5:n.*1518C>T | |
| NM_001131062.1:c.*1518C>T | NP_001124534.1:n.*1518C>T | |
| NM_001131063.1:c.*1518C>T | NP_001124535.1:n.*1518C>T | |
| NM_024632.5:c.*1518C>T | NP_078908.1:n.*1518C>T | |
| NR_024084.1:n.2762C>T | ||
| NM_024632.6:c.*1518C>T MANE Select | NP_078908.1:n.*1518C>T | |
| NM_001131062.2:c.*1518C>T | NP_001124534.1:n.*1518C>T | |
| NM_001131063.2:c.*1518C>T | NP_001124535.1:n.*1518C>T | |
| NR_024084.2:n.2722C>T |