Linked Data
ClinVar Variation Id:
2326637
ClinVar RCV Id:
RCV004169574
dbSNP Id:
rs1323857488
gnomAD v3:
11-66025373-T-G
gnomAD v4:
11-66025373-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66025373T>G , CM000673.2:g.66025373T>G | GRCh38 |
| NC_000011.9:g.65792844T>G , CM000673.1:g.65792844T>G | GRCh37 |
| NC_000011.8:g.65549420T>G | NCBI36 |
| NG_016285.1:g.6145A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312106.6:c.1007A>C MANE Select | ENSP00000309052.5:p.His336Pro | |
| ENST00000312106.5:c.1007A>C | ENSP00000309052.5:p.His336Pro | |
| NM_053054.3:c.1007A>C | NP_444282.3:p.His336Pro | |
| XR_949785.1:n.1147A>C | ||
| XR_949786.1:n.1147A>C | ||
| XR_949787.1:n.1147A>C | ||
| XR_002957121.1:n.1145A>C | ||
| XR_002957122.1:n.1146A>C | ||
| XR_949785.2:n.1145A>C | ||
| XR_949787.2:n.1146A>C | ||
| NM_053054.4:c.1007A>C MANE Select | NP_444282.3:p.His336Pro |