Linked Data
ClinVar Variation Id:
518539
dbSNP Id:
rs1181633993
gnomAD v2:
7-150655595-G-A
gnomAD v3:
7-150958507-G-A
gnomAD v4:
7-150958507-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958507G>A , CM000669.2:g.150958507G>A | GRCh38 |
| NC_000007.13:g.150655595G>A , CM000669.1:g.150655595G>A | GRCh37 |
| NC_000007.12:g.150286528G>A | NCBI36 |
| NG_008916.1:g.24420C>T , LRG_288:g.24420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1306-5C>T | ||
| ENST00000262186.10:c.473-5C>T MANE Select | ENSP00000262186.5:n.473-5C>T | |
| ENST00000262186.9:c.473-5C>T | ENSP00000262186.5:n.473-5C>T | |
| ENST00000430723.4:c.235-115C>T | ENSP00000387657.4:n.235-115C>T | |
| ENST00000532957.5:n.696-5C>T | ||
| NM_000238.3:c.473-5C>T , LRG_288t1:c.473-5C>T | NP_000229.1:n.473-5C>T | |
| NM_172056.2:c.473-5C>T , LRG_288t2:c.473-5C>T | NP_742053.1:n.473-5C>T | |
| XM_011516185.1:c.173-5C>T | XP_011514487.1:n.173-5C>T | |
| XM_011516186.1:c.473-5C>T | XP_011514488.1:n.473-5C>T | |
| XM_011516185.2:c.173-5C>T | XP_011514487.1:n.173-5C>T | |
| XM_011516186.3:c.473-5C>T | XP_011514488.1:n.473-5C>T | |
| XM_017012195.1:c.323-5C>T | XP_016867684.1:n.323-5C>T | |
| XM_017012196.1:c.296-5C>T | XP_016867685.1:n.296-5C>T | |
| NM_000238.4:c.473-5C>T MANE Select | NP_000229.1:n.473-5C>T |