Linked Data
ClinVar Variation Id:
3074635
ClinVar RCV Id:
RCV004014169
dbSNP Id:
rs373387527
gnomAD v3:
19-38580499-A-T
gnomAD v4:
19-38580499-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580499A>T , CM000681.2:g.38580499A>T | GRCh38 |
| NC_000019.9:g.39071139A>T , CM000681.1:g.39071139A>T | GRCh37 |
| NC_000019.8:g.43762979A>T | NCBI36 |
| NG_008866.1:g.151800A>T , LRG_766:g.151800A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1577A>T | ||
| ENST00000688602.1:c.2974A>T | ||
| ENST00000689936.1:c.2946A>T | ||
| ENST00000359596.8:c.14641A>T MANE Select | ENSP00000352608.2:p.Met4881Leu | |
| ENST00000355481.8:c.14626A>T | ENSP00000347667.3:p.Met4876Leu | |
| ENST00000359596.7:c.14641A>T | ENSP00000352608.2:p.Met4881Leu | |
| ENST00000360985.7:c.14623A>T | ENSP00000354254.4:p.Met4875Leu | |
| NM_000540.2:c.14641A>T , LRG_766t1:c.14641A>T | NP_000531.2:p.Met4881Leu | |
| NM_001042723.1:c.14626A>T | NP_001036188.1:p.Met4876Leu | |
| XM_006723317.1:c.14623A>T | XP_006723380.1:p.Met4875Leu | |
| XM_006723319.1:c.14608A>T | XP_006723382.1:p.Met4870Leu | |
| XM_011527204.1:c.14638A>T | XP_011525506.1:p.Met4880Leu | |
| XM_011527205.1:c.14554A>T | XP_011525507.1:p.Met4852Leu | |
| XM_006723317.2:c.14623A>T | XP_006723380.1:p.Met4875Leu | |
| XM_006723319.2:c.14608A>T | XP_006723382.1:p.Met4870Leu | |
| XM_011527205.2:c.14554A>T | XP_011525507.1:p.Met4852Leu | |
| NM_000540.3:c.14641A>T MANE Select | NP_000531.2:p.Met4881Leu | |
| NM_001042723.2:c.14626A>T | NP_001036188.1:p.Met4876Leu |