Linked Data
dbSNP Id:
rs780271011
ExAC:
6:132172234 A / T
gnomAD v2:
6-132172234-A-T
gnomAD v4:
6-131851094-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131851094A>T , CM000668.2:g.131851094A>T | GRCh38 |
| NC_000006.11:g.132172234A>T , CM000668.1:g.132172234A>T | GRCh37 |
| NC_000006.10:g.132213927A>T | NCBI36 |
| NG_008206.1:g.48079A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.431-48A>T MANE Select | ENSP00000498074.1:n.431-48A>T | |
| ENST00000650147.1:c.109-48A>T | ||
| ENST00000650437.1:c.108+988A>T | ||
| ENST00000360971.6:c.431-48A>T | ENSP00000354238.2:n.431-48A>T | |
| ENST00000486853.1:n.451-48A>T | ||
| ENST00000513998.5:c.431-48A>T | ENSP00000422424.1:n.431-48A>T | |
| NM_006208.2:c.431-48A>T | NP_006199.2:n.431-48A>T | |
| NM_006208.3:c.431-48A>T MANE Select | NP_006199.2:n.431-48A>T |