Linked Data
dbSNP Id:
rs1212147084
gnomAD v2:
2-219758044-C-T
gnomAD v3:
2-218893322-C-T
gnomAD v4:
2-218893322-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893322C>T , CM000664.2:g.218893322C>T | GRCh38 |
| NC_000002.11:g.219758044C>T , CM000664.1:g.219758044C>T | GRCh37 |
| NC_000002.10:g.219466288C>T | NCBI36 |
| NG_012179.1:g.17790C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.*51C>T MANE Select | ENSP00000258411.3:n.*51C>T | |
| ENST00000258411.7:c.*51C>T | ENSP00000258411.3:n.*51C>T | |
| ENST00000489887.1:n.47+55C>T | ||
| NM_025216.2:c.*51C>T | NP_079492.2:n.*51C>T | |
| XM_011511928.1:c.*51C>T | XP_011510230.1:n.*51C>T | |
| XM_011511929.1:c.*51C>T | XP_011510231.1:n.*51C>T | |
| XM_011511930.1:c.*25C>T | XP_011510232.1:n.*25C>T | |
| XM_011511929.2:c.*51C>T | XP_011510231.1:n.*51C>T | |
| NM_025216.3:c.*51C>T MANE Select | NP_079492.2:n.*51C>T |