Linked Data
ClinVar Variation Id:
339117
ClinVar RCV Id:
RCV000301995
dbSNP Id:
rs886056872
gnomAD v3:
20-59300693-C-T
gnomAD v4:
20-59300693-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59300693C>T , CM000682.2:g.59300693C>T | GRCh38 |
| NC_000020.10:g.57875748C>T , CM000682.1:g.57875748C>T | GRCh37 |
| NC_000020.9:g.57309143C>T | NCBI36 |
| NG_008050.1:g.5250C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337938.7:c.-120C>T MANE Select | ENSP00000337128.2:n.-120C>T | |
| ENST00000644821.1:c.-120C>T | ENSP00000493472.1:n.-120C>T | |
| ENST00000311585.11:c.-120C>T | ENSP00000311854.7:n.-120C>T | |
| ENST00000337938.6:c.-120C>T | ENSP00000337128.2:n.-120C>T | |
| ENST00000371025.7:c.-120C>T | ENSP00000360064.3:n.-120C>T | |
| ENST00000371028.6:c.-120C>T | ENSP00000360067.2:n.-120C>T | |
| NM_001302455.1:c.-120C>T | NP_001289384.1:n.-120C>T | |
| NM_001302456.1:c.-120C>T | NP_001289385.1:n.-120C>T | |
| NM_207032.2:c.-120C>T | NP_996915.1:n.-120C>T | |
| NM_207033.2:c.-120C>T | NP_996916.1:n.-120C>T | |
| NM_207034.2:c.-120C>T | NP_996917.1:n.-120C>T | |
| XM_005260312.3:c.-120C>T | XP_005260369.1:n.-120C>T | |
| XM_005260313.3:c.-120C>T | XP_005260370.1:n.-120C>T | |
| XM_006723734.2:c.-120C>T | XP_006723797.1:n.-120C>T | |
| XM_011528655.1:c.-120C>T | XP_011526957.1:n.-120C>T | |
| XR_936513.1:n.270C>T | ||
| XM_005260312.4:c.-120C>T | XP_005260369.1:n.-120C>T | |
| XM_005260313.5:c.-120C>T | XP_005260370.1:n.-120C>T | |
| XM_006723734.3:c.-120C>T | XP_006723797.1:n.-120C>T | |
| XM_011528655.2:c.-120C>T | XP_011526957.1:n.-120C>T | |
| XM_024451847.1:c.-120C>T | XP_024307615.1:n.-120C>T | |
| XM_024451848.1:c.-120C>T | XP_024307616.1:n.-120C>T | |
| XR_002958461.1:n.279C>T | ||
| XR_002958462.1:n.279C>T | ||
| XR_936513.2:n.278C>T | ||
| NM_207034.3:c.-120C>T MANE Select | NP_996917.1:n.-120C>T | |
| NM_001302455.2:c.-120C>T | NP_001289384.1:n.-120C>T | |
| NM_001302456.2:c.-120C>T | NP_001289385.1:n.-120C>T | |
| NM_207032.3:c.-120C>T | NP_996915.1:n.-120C>T | |
| NM_207033.3:c.-120C>T | NP_996916.1:n.-120C>T |