Linked Data
ClinVar Variation Id:
1150750
dbSNP Id:
rs1380449680
gnomAD v2:
9-139393458-A-C
gnomAD v3:
9-136499006-A-C
gnomAD v4:
9-136499006-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136499006A>C , CM000671.2:g.136499006A>C | GRCh38 |
| NC_000009.11:g.139393458A>C , CM000671.1:g.139393458A>C | GRCh37 |
| NC_000009.10:g.138513279A>C | NCBI36 |
| NG_007458.1:g.51781T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6083-10T>G MANE Select | ENSP00000498587.1:n.6083-10T>G | |
| ENST00000679595.1:c.*1123-10T>G | ENSP00000506241.1:n.*1123-10T>G | |
| ENST00000679969.1:n.2669T>G | ||
| ENST00000680003.1:n.2415-10T>G | ||
| ENST00000680133.1:c.5969-10T>G | ENSP00000505319.1:n.5969-10T>G | |
| ENST00000680218.1:c.5963-10T>G | ENSP00000505339.1:n.5963-10T>G | |
| ENST00000680668.1:c.5969-10T>G | ENSP00000506336.1:n.5969-10T>G | |
| ENST00000680778.1:c.3680-10T>G | ENSP00000506033.1:n.3680-10T>G | |
| ENST00000680924.1:c.*3483-10T>G | ENSP00000506031.1:n.*3483-10T>G | |
| ENST00000681135.1:c.*3692-10T>G | ENSP00000506636.1:n.*3692-10T>G | |
| ENST00000681298.1:n.4188-10T>G | ||
| ENST00000681454.1:c.*5319-10T>G | ENSP00000505763.1:n.*5319-10T>G | |
| ENST00000277541.6:c.6083-10T>G | ENSP00000277541.6:n.6083-10T>G | |
| NM_017617.3:c.6083-10T>G | NP_060087.3:n.6083-10T>G | |
| XM_011518717.1:c.5384-10T>G | XP_011517019.1:n.5384-10T>G | |
| NM_017617.5:c.6083-10T>G MANE Select | NP_060087.3:n.6083-10T>G | |
| XM_011518717.2:c.5360-10T>G | XP_011517019.2:n.5360-10T>G |