Linked Data
ClinVar Variation Id:
1386490
ClinVar RCV Id:
RCV001881486
dbSNP Id:
rs886062089
gnomAD v4:
7-150957458-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957458C>G , CM000669.2:g.150957458C>G | GRCh38 |
| NC_000007.13:g.150654546C>G , CM000669.1:g.150654546C>G | GRCh37 |
| NC_000007.12:g.150285479C>G | NCBI36 |
| NG_008916.1:g.25469G>C , LRG_288:g.25469G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1794G>C | ||
| ENST00000262186.10:c.961G>C MANE Select | ENSP00000262186.5:p.Asp321His | |
| ENST00000262186.9:c.961G>C | ENSP00000262186.5:p.Asp321His | |
| ENST00000430723.4:c.613G>C | ENSP00000387657.4:p.Asp205His | |
| ENST00000532957.5:n.1184G>C | ||
| NM_000238.3:c.961G>C , LRG_288t1:c.961G>C | NP_000229.1:p.Asp321His | |
| NM_172056.2:c.961G>C , LRG_288t2:c.961G>C | NP_742053.1:p.Asp321His | |
| XM_011516185.1:c.661G>C | XP_011514487.1:p.Asp221His | |
| XM_011516186.1:c.961G>C | XP_011514488.1:p.Asp321His | |
| XM_011516185.2:c.661G>C | XP_011514487.1:p.Asp221His | |
| XM_011516186.3:c.961G>C | XP_011514488.1:p.Asp321His | |
| XM_017012195.1:c.811G>C | XP_016867684.1:p.Asp271His | |
| XM_017012196.1:c.784G>C | XP_016867685.1:p.Asp262His | |
| NM_000238.4:c.961G>C MANE Select | NP_000229.1:p.Asp321His |