Linked Data
ClinVar Variation Id:
337254
dbSNP Id:
rs78909830
gnomAD v2:
2-85776950-A-C
gnomAD v3:
2-85549827-A-C
gnomAD v4:
2-85549827-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85549827A>C , CM000664.2:g.85549827A>C | GRCh38 |
| NC_000002.11:g.85776950A>C , CM000664.1:g.85776950A>C | GRCh37 |
| NC_000002.10:g.85630461A>C | NCBI36 |
| NG_011811.2:g.16708T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473665.2:n.6862T>G | ||
| ENST00000482662.2:n.5269T>G | ||
| ENST00000685865.1:n.3422T>G | ||
| ENST00000687250.1:n.2915T>G | ||
| ENST00000687995.1:n.2736T>G | ||
| ENST00000688205.1:c.*1977T>G | ENSP00000509673.1:n.*1977T>G | |
| ENST00000688788.1:n.2623T>G | ||
| ENST00000689276.1:c.*107T>G | ENSP00000510012.1:n.*107T>G | |
| ENST00000689576.1:c.*1003T>G | ENSP00000508712.1:n.*1003T>G | |
| ENST00000690108.1:c.*2040T>G | ENSP00000510617.1:n.*2040T>G | |
| ENST00000690468.1:c.*936T>G | ENSP00000509078.1:n.*936T>G | |
| ENST00000690595.1:c.*107T>G | ENSP00000508979.1:n.*107T>G | |
| ENST00000691348.1:c.*936T>G | ENSP00000509369.1:n.*936T>G | |
| ENST00000691410.1:c.*1961T>G | ENSP00000508479.1:n.*1961T>G | |
| ENST00000693287.1:c.*107T>G | ENSP00000510264.1:n.*107T>G | |
| ENST00000693354.1:n.1068T>G | ||
| ENST00000693681.1:c.*107T>G | ENSP00000510789.1:n.*107T>G | |
| ENST00000233838.9:c.*107T>G MANE Select | ENSP00000233838.3:n.*107T>G | |
| ENST00000233838.8:c.*107T>G | ENSP00000233838.3:n.*107T>G | |
| ENST00000465637.5:n.179-1823T>G | ||
| NM_000821.5:c.*107T>G | NP_000812.2:n.*107T>G | |
| NM_000821.6:c.*107T>G | NP_000812.2:n.*107T>G | |
| NM_001142269.2:c.*107T>G | NP_001135741.1:n.*107T>G | |
| NM_001142269.3:c.*107T>G | NP_001135741.1:n.*107T>G | |
| XM_005264259.3:c.*107T>G | XP_005264316.1:n.*107T>G | |
| XM_011532764.1:c.*107T>G | XP_011531066.1:n.*107T>G | |
| XM_011532765.1:c.*107T>G | XP_011531067.1:n.*107T>G | |
| XM_005264259.5:c.*107T>G | XP_005264316.1:n.*107T>G | |
| XM_011532764.3:c.*107T>G | XP_011531066.1:n.*107T>G | |
| XM_011532765.3:c.*107T>G | XP_011531067.1:n.*107T>G | |
| XM_017003803.2:c.*107T>G | XP_016859292.1:n.*107T>G | |
| XR_001738703.2:n.2297T>G | ||
| NM_000821.7:c.*107T>G MANE Select | NP_000812.2:n.*107T>G | |
| NM_001142269.4:c.*107T>G | NP_001135741.1:n.*107T>G |