Linked Data
dbSNP Id:
rs1230423414
gnomAD v2:
5-110413516-A-T
gnomAD v3:
5-111077818-A-T
gnomAD v4:
5-111077818-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111077818A>T , CM000667.2:g.111077818A>T | GRCh38 |
| NC_000005.9:g.110413516A>T , CM000667.1:g.110413516A>T | GRCh37 |
| NC_000005.8:g.110441415A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344895.4:c.*1744A>T MANE Select | ENSP00000339804.3:n.*1744A>T | |
| ENST00000379706.4:c.*1744A>T | ENSP00000427827.1:n.*1744A>T | |
| NM_033035.4:c.*1744A>T | NP_149024.1:n.*1744A>T | |
| NM_138551.4:c.*1744A>T | NP_612561.2:n.*1744A>T | |
| NR_045089.1:n.3628A>T | ||
| NM_033035.5:c.*1744A>T MANE Select | NP_149024.1:n.*1744A>T | |
| NM_138551.5:c.*1744A>T | NP_612561.2:n.*1744A>T | |
| NR_045089.2:n.3646A>T |