Linked Data
ClinVar Variation Id:
506588
dbSNP Id:
rs61759491
ExAC:
20:30227767 C / T
gnomAD v2:
20-30227767-C-T
gnomAD v3:
20-31639964-C-T
gnomAD v4:
20-31639964-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31639964C>T , CM000682.2:g.31639964C>T | GRCh38 |
| NC_000020.10:g.30227767C>T , CM000682.1:g.30227767C>T | GRCh37 |
| NC_000020.9:g.29691428C>T | NCBI36 |
| NG_012180.1:g.7077C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376075.4:c.114C>T MANE Select | ENSP00000365243.3:p.Thr38= | |
| ENST00000376075.3:c.114C>T | ENSP00000365243.3:p.Thr38= | |
| ENST00000490030.1:n.144C>T | ||
| NM_032609.2:c.114C>T | NP_115998.2:p.Thr38= | |
| XM_005260579.3:c.129C>T | XP_005260636.1:p.Thr43= | |
| XM_005260580.3:c.129C>T | XP_005260637.1:p.Thr43= | |
| XM_005260581.2:c.114C>T | XP_005260638.1:p.Thr38= | |
| XM_011529086.1:c.15C>T | XP_011527388.1:p.Thr5= | |
| XM_005260579.4:c.129C>T | XP_005260636.1:p.Thr43= | |
| XM_005260580.4:c.129C>T | XP_005260637.1:p.Thr43= | |
| XM_005260581.3:c.114C>T | XP_005260638.1:p.Thr38= | |
| NM_032609.3:c.114C>T MANE Select | NP_115998.2:p.Thr38= |