Linked Data
ClinVar Variation Id:
335064
dbSNP Id:
rs140569105
gnomAD v2:
2-234216474-C-G
gnomAD v3:
2-233307828-C-G
gnomAD v4:
2-233307828-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233307828C>G , CM000664.2:g.233307828C>G | GRCh38 |
| NC_000002.11:g.234216474C>G , CM000664.1:g.234216474C>G | GRCh37 |
| NC_000002.10:g.233881213C>G | NCBI36 |
| NG_009116.1:g.5166C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409110.6:c.-223C>G MANE Select | ENSP00000386444.1:n.-223C>G | |
| ENST00000409110.5:c.-223C>G | ENSP00000386444.1:n.-223C>G | |
| ENST00000447536.5:c.-272C>G | ENSP00000408937.1:n.-272C>G | |
| ENST00000476500.5:n.13C>G | ||
| NM_000541.4:c.-223C>G | NP_000532.2:n.-223C>G | |
| XM_011511589.1:c.-77-1285C>G | XP_011509891.1:n.-77-1285C>G | |
| XM_011511590.1:c.-28-1334C>G | XP_011509892.1:n.-28-1334C>G | |
| XM_011511591.1:c.-77-1285C>G | XP_011509893.1:n.-77-1285C>G | |
| XM_011511595.1:c.-77-1285C>G | XP_011509897.1:n.-77-1285C>G | |
| XM_011511597.1:c.-285-1285C>G | XP_011509899.1:n.-285-1285C>G | |
| XR_922978.1:n.120-1285C>G | ||
| XR_922979.1:n.120-1285C>G | ||
| NM_000541.5:c.-223C>G MANE Select | NP_000532.2:n.-223C>G |