Linked Data
dbSNP Id:
rs17606561
gnomAD v2:
6-10982359-G-A
gnomAD v3:
6-10982126-G-A
gnomAD v4:
6-10982126-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10982126G>A , CM000668.2:g.10982126G>A | GRCh38 |
| NC_000006.11:g.10982359G>A , CM000668.1:g.10982359G>A | GRCh37 |
| NC_000006.10:g.11090345G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354666.4:c.*1655C>T MANE Select | ENSP00000346693.3:n.*1655C>T | |
| ENST00000354666.3:c.*1655C>T | ENSP00000346693.3:n.*1655C>T | |
| NM_017770.3:c.*1655C>T | NP_060240.3:n.*1655C>T | |
| XM_011514716.1:c.*1655C>T | XP_011513018.1:n.*1655C>T | |
| XM_011514717.1:c.*1655C>T | XP_011513019.1:n.*1655C>T | |
| XM_011514716.3:c.*1655C>T | XP_011513018.1:n.*1655C>T | |
| NM_017770.4:c.*1655C>T MANE Select | NP_060240.3:n.*1655C>T |