Linked Data
ClinVar Variation Id:
338850
ClinVar RCV Id:
RCV000357966
dbSNP Id:
rs746437890
gnomAD v2:
20-52790503-C-T
gnomAD v3:
20-54173964-C-T
gnomAD v4:
20-54173964-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54173964C>T , CM000682.2:g.54173964C>T | GRCh38 |
| NC_000020.10:g.52790503C>T , CM000682.1:g.52790503C>T | GRCh37 |
| NC_000020.9:g.52223910C>T | NCBI36 |
| NG_008334.1:g.5014G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216862.8:c.-385G>A MANE Select | ENSP00000216862.3:n.-385G>A | |
| ENST00000216862.7:c.-385G>A | ENSP00000216862.3:n.-385G>A | |
| NM_000782.4:c.-385G>A | NP_000773.2:n.-385G>A | |
| NM_001128915.1:c.-385G>A | NP_001122387.1:n.-385G>A | |
| XM_005260304.3:c.-385G>A | XP_005260361.1:n.-385G>A | |
| XM_005260304.5:c.-385G>A | XP_005260361.1:n.-385G>A | |
| XM_017027691.2:c.-385G>A | XP_016883180.1:n.-385G>A | |
| XM_017027692.2:c.-385G>A | XP_016883181.1:n.-385G>A | |
| XM_017027693.2:c.-385G>A | XP_016883182.1:n.-385G>A | |
| NM_000782.5:c.-385G>A MANE Select | NP_000773.2:n.-385G>A | |
| NM_001128915.2:c.-385G>A | NP_001122387.1:n.-385G>A |