Linked Data
ClinVar Variation Id:
3095482
ClinVar RCV Id:
RCV004386800
dbSNP Id:
rs757561931
gnomAD v2:
1-152283452-C-G
gnomAD v3:
1-152310976-C-G
gnomAD v4:
1-152310976-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152310976C>G , CM000663.2:g.152310976C>G | GRCh38 |
| NC_000001.10:g.152283452C>G , CM000663.1:g.152283452C>G | GRCh37 |
| NC_000001.9:g.150550076C>G | NCBI36 |
| NG_016190.1:g.19228G>C , LRG_1028:g.19228G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.3910G>C MANE Select | ENSP00000357789.1:p.Asp1304His | |
| ENST00000368799.1:c.3910G>C | ENSP00000357789.1:p.Asp1304His | |
| NM_002016.1:c.3910G>C , LRG_1028t1:c.3910G>C | NP_002007.1:p.Asp1304His | |
| XM_011509329.1:c.3910G>C | XP_011507631.1:p.Asp1304His | |
| NM_002016.2:c.3910G>C MANE Select | NP_002007.1:p.Asp1304His |