Linked Data
dbSNP Id:
rs1017135278
gnomAD v2:
2-44114118-G-A
gnomAD v3:
2-43886979-G-A
gnomAD v4:
2-43886979-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43886979G>A , CM000664.2:g.43886979G>A | GRCh38 |
| NC_000002.11:g.44114118G>A , CM000664.1:g.44114118G>A | GRCh37 |
| NC_000002.10:g.43967622G>A | NCBI36 |
| NG_008247.1:g.114027C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682612.1:c.2573C>T | ||
| ENST00000684454.1:n.9670C>T | ||
| ENST00000260665.12:c.*1621C>T MANE Select | ENSP00000260665.7:n.*1621C>T | |
| ENST00000260665.11:c.*1621C>T | ENSP00000260665.7:n.*1621C>T | |
| NM_133259.3:c.*1621C>T | NP_573566.2:n.*1621C>T | |
| XR_002958896.1:n.5988C>T | ||
| NM_133259.4:c.*1621C>T MANE Select | NP_573566.2:n.*1621C>T |