Linked Data
ClinVar Variation Id:
1090120
dbSNP Id:
rs1361757645
gnomAD v4:
7-150958240-G-A
MyVariant Identifiers:
chr7:g.150655328G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958240G>A , CM000669.2:g.150958240G>A | GRCh38 |
| NC_000007.13:g.150655328G>A , CM000669.1:g.150655328G>A | GRCh37 |
| NC_000007.12:g.150286261G>A | NCBI36 |
| NG_008916.1:g.24687C>T , LRG_288:g.24687C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1568C>T | ||
| ENST00000262186.10:c.735C>T MANE Select | ENSP00000262186.5:p.Pro245= | |
| ENST00000262186.9:c.735C>T | ENSP00000262186.5:p.Pro245= | |
| ENST00000430723.4:c.387C>T | ENSP00000387657.4:p.Pro129= | |
| ENST00000532957.5:n.958C>T | ||
| NM_000238.3:c.735C>T , LRG_288t1:c.735C>T | NP_000229.1:p.Pro245= | |
| NM_172056.2:c.735C>T , LRG_288t2:c.735C>T | NP_742053.1:p.Pro245= | |
| XM_011516185.1:c.435C>T | XP_011514487.1:p.Pro145= | |
| XM_011516186.1:c.735C>T | XP_011514488.1:p.Pro245= | |
| XM_011516185.2:c.435C>T | XP_011514487.1:p.Pro145= | |
| XM_011516186.3:c.735C>T | XP_011514488.1:p.Pro245= | |
| XM_017012195.1:c.585C>T | XP_016867684.1:p.Pro195= | |
| XM_017012196.1:c.558C>T | XP_016867685.1:p.Pro186= | |
| NM_000238.4:c.735C>T MANE Select | NP_000229.1:p.Pro245= |