Linked Data
ClinVar Variation Id:
2585510
ClinVar RCV Id:
RCV003338126
dbSNP Id:
rs1974151139
gnomAD v3:
19-38580452-A-G
gnomAD v4:
19-38580452-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580452A>G , CM000681.2:g.38580452A>G | GRCh38 |
| NC_000019.9:g.39071092A>G , CM000681.1:g.39071092A>G | GRCh37 |
| NC_000019.8:g.43762932A>G | NCBI36 |
| NG_008866.1:g.151753A>G , LRG_766:g.151753A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593677.2:c.1530A>G | ||
| ENST00000688602.1:c.2927A>G | ||
| ENST00000689936.1:c.2899A>G | ||
| ENST00000359596.8:c.14594A>G MANE Select | ENSP00000352608.2:p.Asn4865Ser | |
| ENST00000355481.8:c.14579A>G | ENSP00000347667.3:p.Asn4860Ser | |
| ENST00000359596.7:c.14594A>G | ENSP00000352608.2:p.Asn4865Ser | |
| ENST00000360985.7:c.14576A>G | ENSP00000354254.4:p.Asn4859Ser | |
| NM_000540.2:c.14594A>G , LRG_766t1:c.14594A>G | NP_000531.2:p.Asn4865Ser | |
| NM_001042723.1:c.14579A>G | NP_001036188.1:p.Asn4860Ser | |
| XM_006723317.1:c.14576A>G | XP_006723380.1:p.Asn4859Ser | |
| XM_006723319.1:c.14561A>G | XP_006723382.1:p.Asn4854Ser | |
| XM_011527204.1:c.14591A>G | XP_011525506.1:p.Asn4864Ser | |
| XM_011527205.1:c.14507A>G | XP_011525507.1:p.Asn4836Ser | |
| XM_006723317.2:c.14576A>G | XP_006723380.1:p.Asn4859Ser | |
| XM_006723319.2:c.14561A>G | XP_006723382.1:p.Asn4854Ser | |
| XM_011527205.2:c.14507A>G | XP_011525507.1:p.Asn4836Ser | |
| NM_000540.3:c.14594A>G MANE Select | NP_000531.2:p.Asn4865Ser | |
| NM_001042723.2:c.14579A>G | NP_001036188.1:p.Asn4860Ser |