Linked Data
dbSNP Id:
rs772615284
ExAC:
6:160858211 T / G
gnomAD v2:
6-160858211-T-G
gnomAD v3:
6-160437179-T-G
gnomAD v4:
6-160437179-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160437179T>G , CM000668.2:g.160437179T>G | GRCh38 |
| NC_000006.11:g.160858211T>G , CM000668.1:g.160858211T>G | GRCh37 |
| NC_000006.10:g.160778201T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275300.3:c.1256T>G MANE Select | ENSP00000275300.2:p.Val419Gly | |
| ENST00000275300.2:c.1256T>G | ENSP00000275300.2:p.Val419Gly | |
| NM_021977.3:c.1256T>G | NP_068812.1:p.Val419Gly | |
| XM_005267106.3:c.863T>G | XP_005267163.1:p.Val288Gly | |
| XM_011536075.1:c.800T>G | XP_011534377.1:p.Val267Gly | |
| XM_011536076.1:c.800T>G | XP_011534378.1:p.Val267Gly | |
| XM_011536077.1:c.800T>G | XP_011534379.1:p.Val267Gly | |
| XR_245546.1:n.1018-5582T>G | ||
| XM_005267106.5:c.863T>G | XP_005267163.1:p.Val288Gly | |
| XM_011536075.2:c.800T>G | XP_011534377.1:p.Val267Gly | |
| XM_011536076.3:c.800T>G | XP_011534378.1:p.Val267Gly | |
| XM_017011203.2:c.800T>G | XP_016866692.1:p.Val267Gly | |
| XR_001743588.1:n.1200T>G | ||
| XR_001743589.1:n.1018-5582T>G | ||
| NM_021977.4:c.1256T>G MANE Select | NP_068812.1:p.Val419Gly |