Linked Data
ClinVar Variation Id:
433494
ClinVar RCV Id:
RCV000499159
dbSNP Id:
rs780887287
ExAC:
16:16248818 G / C
gnomAD v2:
16-16248818-G-C
gnomAD v4:
16-16154961-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154961G>C , CM000678.2:g.16154961G>C | GRCh38 |
| NC_000016.9:g.16248818G>C , CM000678.1:g.16248818G>C | GRCh37 |
| NC_000016.8:g.16156319G>C | NCBI36 |
| NG_007558.2:g.73511C>G | |
| NG_007558.3:g.73657C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.816C>G | ||
| ENST00000622290.5:c.*125C>G | ENSP00000483331.2:n.*125C>G | |
| ENST00000205557.12:c.3953C>G MANE Select | ENSP00000205557.7:p.Ala1318Gly | |
| ENST00000640696.1:c.767C>G | ENSP00000492197.1:p.Ala256Gly | |
| ENST00000205557.11:c.3953C>G | ENSP00000205557.7:p.Ala1318Gly | |
| ENST00000456970.6:c.3578C>G | ENSP00000405002.2:n.3578C>G | |
| ENST00000576204.5:n.816C>G | ||
| ENST00000622290.4:c.*1162C>G | ENSP00000483331.1:n.*1162C>G | |
| NM_001171.5:c.3953C>G | NP_001162.4:p.Ala1318Gly | |
| XM_011522479.1:c.3920C>G | XP_011520781.1:p.Ala1307Gly | |
| XM_011522480.1:c.3611C>G | XP_011520782.1:p.Ala1204Gly | |
| XM_011522481.1:c.3611C>G | XP_011520783.1:p.Ala1204Gly | |
| XR_932836.1:n.4251C>G | ||
| XR_932837.1:n.3989C>G | ||
| XR_932838.1:n.4052C>G | ||
| XR_933134.1:n.539-4820G>C | ||
| NM_001351800.1:c.3611C>G | NP_001338729.1:p.Ala1204Gly | |
| NR_147784.1:n.3615C>G | ||
| XM_011522479.2:c.3920C>G | XP_011520781.1:p.Ala1307Gly | |
| XM_011522481.3:c.3611C>G | XP_011520783.1:p.Ala1204Gly | |
| XM_017023212.1:c.3785C>G | XP_016878701.1:p.Ala1262Gly | |
| XM_024450261.1:c.3989C>G | XP_024306029.1:p.Ala1330Gly | |
| XR_932837.3:n.3934C>G | ||
| NM_001171.6:c.3953C>G MANE Select | NP_001162.5:p.Ala1318Gly |