Linked Data
ClinVar Variation Id:
2900366
ClinVar RCV Id:
RCV003756882
dbSNP Id:
rs755854964
ExAC:
19:39071081 C / A
gnomAD v2:
19-39071081-C-A
gnomAD v3:
19-38580441-C-A
gnomAD v4:
19-38580441-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580441C>A , CM000681.2:g.38580441C>A | GRCh38 |
| NC_000019.9:g.39071081C>A , CM000681.1:g.39071081C>A | GRCh37 |
| NC_000019.8:g.43762921C>A | NCBI36 |
| NG_008866.1:g.151742C>A , LRG_766:g.151742C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593677.2:c.1519C>A | ||
| ENST00000688602.1:c.2916C>A | ||
| ENST00000689936.1:c.2888C>A | ||
| ENST00000359596.8:c.14583C>A MANE Select | ENSP00000352608.2:p.Arg4861= | |
| ENST00000355481.8:c.14568C>A | ENSP00000347667.3:p.Arg4856= | |
| ENST00000359596.7:c.14583C>A | ENSP00000352608.2:p.Arg4861= | |
| ENST00000360985.7:c.14565C>A | ENSP00000354254.4:p.Arg4855= | |
| NM_000540.2:c.14583C>A , LRG_766t1:c.14583C>A | NP_000531.2:p.Arg4861= | |
| NM_001042723.1:c.14568C>A | NP_001036188.1:p.Arg4856= | |
| XM_006723317.1:c.14565C>A | XP_006723380.1:p.Arg4855= | |
| XM_006723319.1:c.14550C>A | XP_006723382.1:p.Arg4850= | |
| XM_011527204.1:c.14580C>A | XP_011525506.1:p.Arg4860= | |
| XM_011527205.1:c.14496C>A | XP_011525507.1:p.Arg4832= | |
| XM_006723317.2:c.14565C>A | XP_006723380.1:p.Arg4855= | |
| XM_006723319.2:c.14550C>A | XP_006723382.1:p.Arg4850= | |
| XM_011527205.2:c.14496C>A | XP_011525507.1:p.Arg4832= | |
| NM_000540.3:c.14583C>A MANE Select | NP_000531.2:p.Arg4861= | |
| NM_001042723.2:c.14568C>A | NP_001036188.1:p.Arg4856= |