Linked Data
dbSNP Id:
rs754615557
ExAC:
19:39076776 A / T
gnomAD v2:
19-39076776-A-T
gnomAD v4:
19-38586136-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38586136A>T , CM000681.2:g.38586136A>T | GRCh38 |
| NC_000019.9:g.39076776A>T , CM000681.1:g.39076776A>T | GRCh37 |
| NC_000019.8:g.43768616A>T | NCBI36 |
| NG_008866.1:g.157437A>T , LRG_766:g.157437A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1850A>T | ||
| ENST00000688602.1:c.3247A>T | ||
| ENST00000689936.1:c.3219A>T | ||
| ENST00000692547.1:n.307A>T | ||
| ENST00000359596.8:c.14914A>T MANE Select | ENSP00000352608.2:p.Thr4972Ser | |
| ENST00000355481.8:c.14899A>T | ENSP00000347667.3:p.Thr4967Ser | |
| ENST00000359596.7:c.14914A>T | ENSP00000352608.2:p.Thr4972Ser | |
| ENST00000360985.7:c.14896A>T | ENSP00000354254.4:p.Thr4966Ser | |
| NM_000540.2:c.14914A>T , LRG_766t1:c.14914A>T | NP_000531.2:p.Thr4972Ser | |
| NM_001042723.1:c.14899A>T | NP_001036188.1:p.Thr4967Ser | |
| XM_006723317.1:c.14896A>T | XP_006723380.1:p.Thr4966Ser | |
| XM_006723319.1:c.14881A>T | XP_006723382.1:p.Thr4961Ser | |
| XM_011527204.1:c.14911A>T | XP_011525506.1:p.Thr4971Ser | |
| XM_011527205.1:c.14827A>T | XP_011525507.1:p.Thr4943Ser | |
| XM_006723317.2:c.14896A>T | XP_006723380.1:p.Thr4966Ser | |
| XM_006723319.2:c.14881A>T | XP_006723382.1:p.Thr4961Ser | |
| XM_011527205.2:c.14827A>T | XP_011525507.1:p.Thr4943Ser | |
| NM_000540.3:c.14914A>T MANE Select | NP_000531.2:p.Thr4972Ser | |
| NM_001042723.2:c.14899A>T | NP_001036188.1:p.Thr4967Ser |