Linked Data
ClinVar Variation Id:
405352
dbSNP Id:
rs376308069
ExAC:
7:150656777 C / G
gnomAD v2:
7-150656777-C-G
gnomAD v3:
7-150959689-C-G
gnomAD v4:
7-150959689-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150959689C>G , CM000669.2:g.150959689C>G | GRCh38 |
| NC_000007.13:g.150656777C>G , CM000669.1:g.150656777C>G | GRCh37 |
| NC_000007.12:g.150287710C>G | NCBI36 |
| NG_008916.1:g.23238G>C , LRG_288:g.23238G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1188G>C | ||
| ENST00000262186.10:c.355G>C MANE Select | ENSP00000262186.5:p.Asp119His | |
| ENST00000262186.9:c.355G>C | ENSP00000262186.5:p.Asp119His | |
| ENST00000430723.4:c.178G>C | ENSP00000387657.4:p.Asp60His | |
| ENST00000532957.5:n.578G>C | ||
| NM_000238.3:c.355G>C , LRG_288t1:c.355G>C | NP_000229.1:p.Asp119His | |
| NM_172056.2:c.355G>C , LRG_288t2:c.355G>C | NP_742053.1:p.Asp119His | |
| XM_011516185.1:c.55G>C | XP_011514487.1:p.Asp19His | |
| XM_011516186.1:c.355G>C | XP_011514488.1:p.Asp119His | |
| XM_011516185.2:c.55G>C | XP_011514487.1:p.Asp19His | |
| XM_011516186.3:c.355G>C | XP_011514488.1:p.Asp119His | |
| XM_017012195.1:c.205G>C | XP_016867684.1:p.Asp69His | |
| XM_017012196.1:c.178G>C | XP_016867685.1:p.Asp60His | |
| NM_000238.4:c.355G>C MANE Select | NP_000229.1:p.Asp119His |