Linked Data
ClinVar Variation Id:
2882279
ClinVar RCV Id:
RCV003648722
dbSNP Id:
rs1801230536
gnomAD v3:
7-150952755-C-G
gnomAD v4:
7-150952755-C-G
MyVariant Identifiers:
chr7:g.150649843C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150952755C>G , CM000669.2:g.150952755C>G | GRCh38 |
| NC_000007.13:g.150649843C>G , CM000669.1:g.150649843C>G | GRCh37 |
| NC_000007.12:g.150280776C>G | NCBI36 |
| NG_008916.1:g.30172G>C , LRG_288:g.30172G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461280.2:n.525G>C | ||
| ENST00000684116.1:n.120G>C | ||
| ENST00000684241.1:n.2060G>C | ||
| ENST00000262186.10:c.1227G>C MANE Select | ENSP00000262186.5:p.Val409= | |
| ENST00000330883.9:c.207G>C | ENSP00000328531.4:p.Val69= | |
| ENST00000262186.9:c.1227G>C | ENSP00000262186.5:p.Val409= | |
| ENST00000330883.8:c.207G>C | ENSP00000328531.4:p.Val69= | |
| ENST00000430723.4:c.879G>C | ENSP00000387657.4:p.Val293= | |
| ENST00000461280.1:n.514G>C | ||
| ENST00000473610.5:n.532G>C | ||
| ENST00000532957.5:n.1450G>C | ||
| NM_000238.3:c.1227G>C , LRG_288t1:c.1227G>C | NP_000229.1:p.Val409= | |
| NM_001204798.1:c.207G>C | NP_001191727.1:p.Val69= | |
| NM_172056.2:c.1227G>C , LRG_288t2:c.1227G>C | NP_742053.1:p.Val409= | |
| NM_172057.2:c.207G>C , LRG_288t3:c.207G>C | NP_742054.1:p.Val69= | |
| XM_011516185.1:c.927G>C | XP_011514487.1:p.Val309= | |
| XM_011516186.1:c.1227G>C | XP_011514488.1:p.Val409= | |
| XM_011516185.2:c.927G>C | XP_011514487.1:p.Val309= | |
| XM_011516186.3:c.1227G>C | XP_011514488.1:p.Val409= | |
| XM_017012195.1:c.1077G>C | XP_016867684.1:p.Val359= | |
| XM_017012196.1:c.1050G>C | XP_016867685.1:p.Val350= | |
| NM_000238.4:c.1227G>C MANE Select | NP_000229.1:p.Val409= | |
| NM_001204798.2:c.207G>C | NP_001191727.1:p.Val69= | |
| NM_172057.3:c.207G>C | NP_742054.1:p.Val69= |