Linked Data
ClinVar Variation Id:
910
ClinVar RCV Id:
RCV000000958
dbSNP Id:
rs118203936
gnomAD v2:
19-15659984-C-G
gnomAD v4:
19-15549173-C-G
PubMed:
PMID:16436457
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15549173C>G , CM000681.2:g.15549173C>G | GRCh38 |
| NC_000019.9:g.15659984C>G , CM000681.1:g.15659984C>G | GRCh37 |
| NC_000019.8:g.15520984C>G | NCBI36 |
| NG_007987.1:g.45649C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269703.8:c.1306C>G MANE Select | ENSP00000269703.1:p.His436Asp | |
| ENST00000269703.7:c.1306C>G | ENSP00000269703.1:p.His436Asp | |
| ENST00000601005.2:c.1306C>G | ENSP00000469866.1:p.His436Asp | |
| NM_173483.3:c.1306C>G | NP_775754.2:p.His436Asp | |
| XM_011527692.1:c.1306C>G | XP_011525994.1:p.His436Asp | |
| XM_011527693.1:c.1306C>G | XP_011525995.1:p.His436Asp | |
| XM_011527692.2:c.1306C>G | XP_011525994.1:p.His436Asp | |
| XM_011527693.2:c.1306C>G | XP_011525995.1:p.His436Asp | |
| NM_173483.4:c.1306C>G MANE Select | NP_775754.2:p.His436Asp |