Linked Data
ClinVar Variation Id:
338825
ClinVar RCV Id:
RCV000345662
dbSNP Id:
rs6068816
ExAC:
20:52781091 C / T
gnomAD v2:
20-52781091-C-T
gnomAD v3:
20-54164552-C-T
gnomAD v4:
20-54164552-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54164552C>T , CM000682.2:g.54164552C>T | GRCh38 |
| NC_000020.10:g.52781091C>T , CM000682.1:g.52781091C>T | GRCh37 |
| NC_000020.9:g.52214498C>T | NCBI36 |
| NG_008334.1:g.14426G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216862.8:c.744G>A MANE Select | ENSP00000216862.3:p.Thr248= | |
| ENST00000216862.7:c.744G>A | ENSP00000216862.3:p.Thr248= | |
| ENST00000395954.3:c.318G>A | ENSP00000379284.3:p.Thr106= | |
| ENST00000395955.7:c.744G>A | ENSP00000379285.3:p.Thr248= | |
| NM_000782.4:c.744G>A | NP_000773.2:p.Thr248= | |
| NM_001128915.1:c.744G>A | NP_001122387.1:p.Thr248= | |
| XM_005260304.3:c.744G>A | XP_005260361.1:p.Thr248= | |
| XM_005260304.5:c.744G>A | XP_005260361.1:p.Thr248= | |
| XM_017027691.2:c.744G>A | XP_016883180.1:p.Thr248= | |
| XM_017027692.2:c.744G>A | XP_016883181.1:p.Thr248= | |
| XM_017027693.2:c.744G>A | XP_016883182.1:p.Thr248= | |
| NM_000782.5:c.744G>A MANE Select | NP_000773.2:p.Thr248= | |
| NM_001128915.2:c.744G>A | NP_001122387.1:p.Thr248= |