Linked Data
ClinVar Variation Id:
1493691
dbSNP Id:
rs376677576
ExAC:
19:39071141 G / T
gnomAD v2:
19-39071141-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580501G>T , CM000681.2:g.38580501G>T | GRCh38 |
| NC_000019.9:g.39071141G>T , CM000681.1:g.39071141G>T | GRCh37 |
| NC_000019.8:g.43762981G>T | NCBI36 |
| NG_008866.1:g.151802G>T , LRG_766:g.151802G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1579G>T | ||
| ENST00000688602.1:c.2976G>T | ||
| ENST00000689936.1:c.2948G>T | ||
| ENST00000359596.8:c.14643G>T MANE Select | ENSP00000352608.2:p.Met4881Ile | |
| ENST00000355481.8:c.14628G>T | ENSP00000347667.3:p.Met4876Ile | |
| ENST00000359596.7:c.14643G>T | ENSP00000352608.2:p.Met4881Ile | |
| ENST00000360985.7:c.14625G>T | ENSP00000354254.4:p.Met4875Ile | |
| NM_000540.2:c.14643G>T , LRG_766t1:c.14643G>T | NP_000531.2:p.Met4881Ile | |
| NM_001042723.1:c.14628G>T | NP_001036188.1:p.Met4876Ile | |
| XM_006723317.1:c.14625G>T | XP_006723380.1:p.Met4875Ile | |
| XM_006723319.1:c.14610G>T | XP_006723382.1:p.Met4870Ile | |
| XM_011527204.1:c.14640G>T | XP_011525506.1:p.Met4880Ile | |
| XM_011527205.1:c.14556G>T | XP_011525507.1:p.Met4852Ile | |
| XM_006723317.2:c.14625G>T | XP_006723380.1:p.Met4875Ile | |
| XM_006723319.2:c.14610G>T | XP_006723382.1:p.Met4870Ile | |
| XM_011527205.2:c.14556G>T | XP_011525507.1:p.Met4852Ile | |
| NM_000540.3:c.14643G>T MANE Select | NP_000531.2:p.Met4881Ile | |
| NM_001042723.2:c.14628G>T | NP_001036188.1:p.Met4876Ile |