Linked Data
ClinVar Variation Id:
2282913
ClinVar RCV Id:
RCV002840396
dbSNP Id:
rs1388580123
gnomAD v3:
1-152308750-C-T
gnomAD v4:
1-152308750-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152308750C>T , CM000663.2:g.152308750C>T | GRCh38 |
| NC_000001.10:g.152281226C>T , CM000663.1:g.152281226C>T | GRCh37 |
| NC_000001.9:g.150547850C>T | NCBI36 |
| NG_016190.1:g.21454G>A , LRG_1028:g.21454G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.6136G>A MANE Select | ENSP00000357789.1:p.Asp2046Asn | |
| ENST00000368799.1:c.6136G>A | ENSP00000357789.1:p.Asp2046Asn | |
| NM_002016.1:c.6136G>A , LRG_1028t1:c.6136G>A | NP_002007.1:p.Asp2046Asn | |
| XM_011509329.1:c.6136G>A | XP_011507631.1:p.Asp2046Asn | |
| NM_002016.2:c.6136G>A MANE Select | NP_002007.1:p.Asp2046Asn |