Linked Data
ClinVar Variation Id:
1238055
ClinVar RCV Id:
RCV001637603
dbSNP Id:
rs2273502
gnomAD v2:
20-61987822-C-T
gnomAD v3:
20-63356470-C-T
gnomAD v4:
20-63356470-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63356470C>T , CM000682.2:g.63356470C>T | GRCh38 |
| NC_000020.10:g.61987822C>T , CM000682.1:g.61987822C>T | GRCh37 |
| NC_000020.9:g.61458266C>T | NCBI36 |
| NG_011931.1:g.9874G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370263.9:c.229-55G>A MANE Select | ENSP00000359285.4:n.229-55G>A | |
| ENST00000636481.1:n.105G>A | ||
| ENST00000675470.1:c.229-55G>A | ENSP00000502096.1:n.229-55G>A | |
| ENST00000370263.8:c.229-55G>A | ENSP00000359285.4:n.229-55G>A | |
| ENST00000463705.5:n.1032-5443G>A | ||
| ENST00000467563.3:n.281-55G>A | ||
| ENST00000498043.6:c.153-55G>A | ||
| ENST00000615287.4:c.-85-55G>A | ENSP00000483388.1:n.-85-55G>A | |
| ENST00000627000.1:c.229-55G>A | ENSP00000486914.1:n.229-55G>A | |
| ENST00000628665.1:n.254-55G>A | ||
| NM_000744.6:c.229-55G>A | NP_000735.1:n.229-55G>A | |
| NM_001256573.1:c.-318-55G>A | NP_001243502.1:n.-318-55G>A | |
| NR_046317.1:n.460-55G>A | ||
| XM_017027625.2:c.-318-55G>A | XP_016883114.1:n.-318-55G>A | |
| NM_001256573.2:c.-318-55G>A | NP_001243502.1:n.-318-55G>A | |
| NR_046317.2:n.413-55G>A | ||
| NM_000744.7:c.229-55G>A MANE Select | NP_000735.1:n.229-55G>A |