Linked Data
ClinVar Variation Id:
1079941
ClinVar RCV Id:
RCV001395424
dbSNP Id:
rs751291871
ExAC:
6:57061295 T / C
gnomAD v2:
6-57061295-T-C
gnomAD v3:
6-57196497-T-C
gnomAD v4:
6-57196497-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.57196497T>C , CM000668.2:g.57196497T>C | GRCh38 |
| NC_000006.11:g.57061295T>C , CM000668.1:g.57061295T>C | GRCh37 |
| NC_000006.10:g.57169254T>C | NCBI36 |
| NG_012170.1:g.30784A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000468148.6:c.351A>G MANE Select | ENSP00000417610.1:p.Val117= | |
| ENST00000317483.4:c.351A>G | ENSP00000320413.3:p.Val117= | |
| ENST00000468148.5:c.351A>G | ENSP00000417610.1:p.Val117= | |
| NM_001278666.1:c.351A>G | NP_001265595.1:p.Val117= | |
| NM_001278667.1:c.351A>G | NP_001265596.1:p.Val117= | |
| NM_001278668.1:c.351A>G | NP_001265597.1:p.Val117= | |
| NM_016277.4:c.351A>G | NP_057361.3:p.Val117= | |
| NM_183227.2:c.351A>G | NP_899050.1:p.Val117= | |
| NR_103822.1:n.341-2563A>G | ||
| XM_005249179.2:c.351A>G | XP_005249236.1:p.Val117= | |
| NM_016277.5:c.351A>G MANE Select | NP_057361.3:p.Val117= | |
| NM_001278666.2:c.351A>G | NP_001265595.1:p.Val117= | |
| NM_001278667.2:c.351A>G | NP_001265596.1:p.Val117= | |
| NM_001278668.2:c.351A>G | NP_001265597.1:p.Val117= | |
| NM_183227.3:c.351A>G | NP_899050.1:p.Val117= | |
| NR_103822.2:n.334-2563A>G |