Linked Data
dbSNP Id:
rs768464170
gnomAD v2:
2-44114522-C-T
gnomAD v3:
2-43887383-C-T
gnomAD v4:
2-43887383-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43887383C>T , CM000664.2:g.43887383C>T | GRCh38 |
| NC_000002.11:g.44114522C>T , CM000664.1:g.44114522C>T | GRCh37 |
| NC_000002.10:g.43968026C>T | NCBI36 |
| NG_008247.1:g.113623G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682612.1:c.2169G>A | ||
| ENST00000684454.1:n.9266G>A | ||
| ENST00000260665.12:c.*1217G>A MANE Select | ENSP00000260665.7:n.*1217G>A | |
| ENST00000260665.11:c.*1217G>A | ENSP00000260665.7:n.*1217G>A | |
| NM_133259.3:c.*1217G>A | NP_573566.2:n.*1217G>A | |
| XR_002958896.1:n.5584G>A | ||
| NM_133259.4:c.*1217G>A MANE Select | NP_573566.2:n.*1217G>A |