Linked Data
dbSNP Id:
rs753401983
ExAC:
19:39071090 C / T
gnomAD v2:
19-39071090-C-T
gnomAD v3:
19-38580450-C-T
gnomAD v4:
19-38580450-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580450C>T , CM000681.2:g.38580450C>T | GRCh38 |
| NC_000019.9:g.39071090C>T , CM000681.1:g.39071090C>T | GRCh37 |
| NC_000019.8:g.43762930C>T | NCBI36 |
| NG_008866.1:g.151751C>T , LRG_766:g.151751C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593677.2:c.1528C>T | ||
| ENST00000688602.1:c.2925C>T | ||
| ENST00000689936.1:c.2897C>T | ||
| ENST00000359596.8:c.14592C>T MANE Select | ENSP00000352608.2:p.Tyr4864= | |
| ENST00000355481.8:c.14577C>T | ENSP00000347667.3:p.Tyr4859= | |
| ENST00000359596.7:c.14592C>T | ENSP00000352608.2:p.Tyr4864= | |
| ENST00000360985.7:c.14574C>T | ENSP00000354254.4:p.Tyr4858= | |
| NM_000540.2:c.14592C>T , LRG_766t1:c.14592C>T | NP_000531.2:p.Tyr4864= | |
| NM_001042723.1:c.14577C>T | NP_001036188.1:p.Tyr4859= | |
| XM_006723317.1:c.14574C>T | XP_006723380.1:p.Tyr4858= | |
| XM_006723319.1:c.14559C>T | XP_006723382.1:p.Tyr4853= | |
| XM_011527204.1:c.14589C>T | XP_011525506.1:p.Tyr4863= | |
| XM_011527205.1:c.14505C>T | XP_011525507.1:p.Tyr4835= | |
| XM_006723317.2:c.14574C>T | XP_006723380.1:p.Tyr4858= | |
| XM_006723319.2:c.14559C>T | XP_006723382.1:p.Tyr4853= | |
| XM_011527205.2:c.14505C>T | XP_011525507.1:p.Tyr4835= | |
| NM_000540.3:c.14592C>T MANE Select | NP_000531.2:p.Tyr4864= | |
| NM_001042723.2:c.14577C>T | NP_001036188.1:p.Tyr4859= |