Linked Data
dbSNP Id:
rs2659056
gnomAD v2:
19-51335943-T-C
gnomAD v3:
19-50832687-T-C
gnomAD v4:
19-50832687-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50832687T>C , CM000681.2:g.50832687T>C | GRCh38 |
| NC_000019.9:g.51335943T>C , CM000681.1:g.51335943T>C | GRCh37 |
| NC_000019.8:g.56027755T>C | NCBI36 |
| NG_029894.1:g.3837A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000598239.6:c.-32+840A>G MANE Select | ENSP00000469315.1:n.-32+840A>G | |
| ENST00000695965.1:c.-32+840A>G | ENSP00000512291.1:n.-32+840A>G | |
| ENST00000695998.1:c.-32+412A>G | ENSP00000512319.1:n.-32+412A>G | |
| ENST00000326856.8:c.-31-1164A>G | ENSP00000314783.4:n.-31-1164A>G | |
| ENST00000598673.1:c.-156+412A>G | ENSP00000472523.1:n.-156+412A>G | |
| NR_131203.1:n.213+1394T>C | ||
| NR_131205.1:n.230+1394T>C | ||
| XM_006723265.2:c.-32+840A>G | XP_006723328.1:n.-32+840A>G | |
| XM_011527083.1:c.-31-1164A>G | XP_011525385.1:n.-31-1164A>G | |
| XM_011527084.1:c.-32+412A>G | XP_011525386.1:n.-32+412A>G | |
| XM_011527085.1:c.-32+840A>G | XP_011525387.1:n.-32+840A>G | |
| XM_011527086.1:c.-32+412A>G | XP_011525388.1:n.-32+412A>G | |
| XM_011527087.1:c.-32+840A>G | XP_011525389.1:n.-32+840A>G | |
| XM_011527088.1:c.-32+840A>G | XP_011525390.1:n.-32+840A>G | |
| XM_011527089.1:c.-32+840A>G | XP_011525391.1:n.-32+840A>G | |
| XM_011527090.1:c.-31-1164A>G | XP_011525392.1:n.-31-1164A>G | |
| XR_936030.1:n.298+1394T>C | ||
| XR_936031.1:n.298+1394T>C | ||
| XR_936032.1:n.298+1394T>C | ||
| XR_936033.1:n.294+1394T>C | ||
| XR_936035.1:n.281+1394T>C | ||
| XM_006723265.3:c.-32+840A>G | XP_006723328.1:n.-32+840A>G | |
| XM_011527085.2:c.-32+840A>G | XP_011525387.1:n.-32+840A>G | |
| XM_011527087.2:c.-32+840A>G | XP_011525389.1:n.-32+840A>G | |
| XM_011527088.2:c.-32+840A>G | XP_011525390.1:n.-32+840A>G | |
| XM_011527089.2:c.-32+840A>G | XP_011525391.1:n.-32+840A>G | |
| XM_017026943.1:c.-32+840A>G | XP_016882432.1:n.-32+840A>G | |
| XR_001753713.1:n.811+840A>G | ||
| NM_001277081.2:c.-32+840A>G | NP_001264010.1:n.-32+840A>G | |
| NM_001277082.2:c.-32+840A>G | NP_001264011.1:n.-32+840A>G | |
| NM_017509.4:c.-32+840A>G MANE Select | NP_059979.2:n.-32+840A>G |