Linked Data
ClinVar Variation Id:
280858
dbSNP Id:
rs765443042
ExAC:
6:57075097 G / A
gnomAD v2:
6-57075097-G-A
gnomAD v3:
6-57210299-G-A
gnomAD v4:
6-57210299-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.57210299G>A , CM000668.2:g.57210299G>A | GRCh38 |
| NC_000006.11:g.57075097G>A , CM000668.1:g.57075097G>A | GRCh37 |
| NC_000006.10:g.57183056G>A | NCBI36 |
| NG_012170.1:g.16982C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000468148.6:c.82C>T MANE Select | ENSP00000417610.1:p.Arg28Ter | |
| ENST00000317483.4:c.82C>T | ENSP00000320413.3:p.Arg28Ter | |
| ENST00000468148.5:c.82C>T | ENSP00000417610.1:p.Arg28Ter | |
| NM_001278666.1:c.82C>T | NP_001265595.1:p.Arg28Ter | |
| NM_001278667.1:c.82C>T | NP_001265596.1:p.Arg28Ter | |
| NM_001278668.1:c.82C>T | NP_001265597.1:p.Arg28Ter | |
| NM_016277.4:c.82C>T | NP_057361.3:p.Arg28Ter | |
| NM_183227.2:c.82C>T | NP_899050.1:p.Arg28Ter | |
| NR_103822.1:n.267C>T | ||
| XM_005249179.2:c.82C>T | XP_005249236.1:p.Arg28Ter | |
| NM_016277.5:c.82C>T MANE Select | NP_057361.3:p.Arg28Ter | |
| NM_001278666.2:c.82C>T | NP_001265595.1:p.Arg28Ter | |
| NM_001278667.2:c.82C>T | NP_001265596.1:p.Arg28Ter | |
| NM_001278668.2:c.82C>T | NP_001265597.1:p.Arg28Ter | |
| NM_183227.3:c.82C>T | NP_899050.1:p.Arg28Ter | |
| NR_103822.2:n.260C>T |