Linked Data
ClinVar Variation Id:
2967735
ClinVar RCV Id:
RCV003826397
dbSNP Id:
rs753811601
ExAC:
9:140652324 A / G
gnomAD v2:
9-140652324-A-G
gnomAD v4:
9-137757872-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137757872A>G , CM000671.2:g.137757872A>G | GRCh38 |
| NC_000009.11:g.140652324A>G , CM000671.1:g.140652324A>G | GRCh37 |
| NC_000009.10:g.139772145A>G | NCBI36 |
| NG_011776.1:g.143881A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.1370-8A>G MANE Select | ENSP00000417980.1:n.1370-8A>G | |
| ENST00000629335.2:c.1370-8A>G | ENSP00000490056.1:n.1370-8A>G | |
| ENST00000636027.1:c.1256-8A>G | ENSP00000489961.1:n.1256-8A>G | |
| ENST00000637161.1:c.1277-8A>G | ENSP00000490328.1:n.1277-8A>G | |
| ENST00000637261.1:c.1410-8A>G | ENSP00000490815.1:n.1410-8A>G | |
| ENST00000637977.1:c.1315-8A>G | ||
| ENST00000638071.1:c.997-8A>G | ||
| ENST00000640639.1:c.539-8A>G | ENSP00000491823.1:n.539-8A>G | |
| ENST00000371394.6:c.*1105-8A>G | ENSP00000485945.1:n.*1105-8A>G | |
| ENST00000460843.5:c.1370-8A>G | ENSP00000417980.1:n.1370-8A>G | |
| ENST00000462484.5:c.1370-8A>G | ENSP00000417328.1:n.1370-8A>G | |
| ENST00000462942.3:c.227-8A>G | ENSP00000436107.1:n.227-8A>G | |
| ENST00000465566.2:c.62-8A>G | ENSP00000486261.1:n.62-8A>G | |
| ENST00000626066.2:c.1273-8A>G | ||
| ENST00000629808.2:c.463-8A>G | ||
| NM_001145527.1:c.1370-8A>G | NP_001138999.1:n.1370-8A>G | |
| NM_024757.4:c.1370-8A>G | NP_079033.4:n.1370-8A>G | |
| XM_005266105.3:c.1361-8A>G | XP_005266162.1:n.1361-8A>G | |
| XM_005266110.1:c.1277-8A>G | XP_005266167.1:n.1277-8A>G | |
| XM_006717288.2:c.1352-8A>G | XP_006717351.1:n.1352-8A>G | |
| XM_011519021.1:c.1379-8A>G | XP_011517323.1:n.1379-8A>G | |
| XM_011519022.1:c.1376-8A>G | XP_011517324.1:n.1376-8A>G | |
| XM_011519023.1:c.1358-8A>G | XP_011517325.1:n.1358-8A>G | |
| XM_011519024.1:c.1301-8A>G | XP_011517326.1:n.1301-8A>G | |
| XM_011519025.1:c.1277-8A>G | XP_011517327.1:n.1277-8A>G | |
| XM_011519026.1:c.1379-8A>G | XP_011517328.1:n.1379-8A>G | |
| XM_011519027.1:c.1379-8A>G | XP_011517329.1:n.1379-8A>G | |
| XM_011519028.1:c.1379-8A>G | XP_011517330.1:n.1379-8A>G | |
| XM_011519033.1:c.1358-8A>G | XP_011517335.1:n.1358-8A>G | |
| NM_001354259.1:c.1277-8A>G | NP_001341188.1:n.1277-8A>G | |
| NM_001354263.1:c.1349-8A>G | NP_001341192.1:n.1349-8A>G | |
| NM_001354611.1:c.1370-8A>G | NP_001341540.1:n.1370-8A>G | |
| NM_001354612.1:c.1277-8A>G | NP_001341541.1:n.1277-8A>G | |
| XM_005266105.5:c.1361-8A>G | XP_005266162.1:n.1361-8A>G | |
| XM_011519021.3:c.1379-8A>G | XP_011517323.1:n.1379-8A>G | |
| XM_011519022.3:c.1376-8A>G | XP_011517324.1:n.1376-8A>G | |
| XM_011519023.3:c.1358-8A>G | XP_011517325.1:n.1358-8A>G | |
| XM_017015134.1:c.1355-8A>G | XP_016870623.1:n.1355-8A>G | |
| XM_017015136.2:c.1271-8A>G | XP_016870625.1:n.1271-8A>G | |
| XM_017015137.1:c.1256-8A>G | XP_016870626.1:n.1256-8A>G | |
| XM_017015138.1:c.1256-8A>G | XP_016870627.1:n.1256-8A>G | |
| XM_024447674.1:c.1199-8A>G | XP_024303442.1:n.1199-8A>G | |
| XM_024447675.1:c.1277-8A>G | XP_024303443.1:n.1277-8A>G | |
| XM_024447676.1:c.494-8A>G | XP_024303444.1:n.494-8A>G | |
| XM_024447677.1:c.494-8A>G | XP_024303445.1:n.494-8A>G | |
| XM_024447678.1:c.1277-8A>G | XP_024303446.1:n.1277-8A>G | |
| XM_024447679.1:c.1277-8A>G | XP_024303447.1:n.1277-8A>G | |
| XM_024447680.1:c.1256-8A>G | XP_024303448.1:n.1256-8A>G | |
| NM_024757.5:c.1370-8A>G MANE Select | NP_079033.4:n.1370-8A>G | |
| NM_001145527.2:c.1370-8A>G | NP_001138999.1:n.1370-8A>G | |
| NM_001354259.2:c.1277-8A>G | NP_001341188.1:n.1277-8A>G | |
| NM_001354263.2:c.1349-8A>G | NP_001341192.1:n.1349-8A>G | |
| NM_001354611.2:c.1370-8A>G | NP_001341540.1:n.1370-8A>G | |
| NM_001354612.2:c.1277-8A>G | NP_001341541.1:n.1277-8A>G |