Linked Data
ClinVar Variation Id:
500785
dbSNP Id:
rs927500992
gnomAD v2:
7-157178231-A-G
gnomAD v4:
7-157385537-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.157385537A>G , CM000669.2:g.157385537A>G | GRCh38 |
| NC_000007.13:g.157178231A>G , CM000669.1:g.157178231A>G | GRCh37 |
| NC_000007.12:g.156870992A>G | NCBI36 |
| NG_032573.1:g.53522A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262177.9:c.621-4A>G MANE Select | ENSP00000262177.4:n.621-4A>G | |
| ENST00000262177.8:c.621-4A>G | ENSP00000262177.4:n.621-4A>G | |
| ENST00000417758.5:c.621-4A>G | ENSP00000400665.1:n.621-4A>G | |
| ENST00000429029.6:c.621-4A>G | ENSP00000397556.2:n.621-4A>G | |
| ENST00000443280.5:c.346+18054A>G | ENSP00000396267.1:n.346+18054A>G | |
| ENST00000459889.5:c.621-4A>G | ENSP00000488263.1:n.621-4A>G | |
| ENST00000465908.5:n.417-4A>G | ||
| ENST00000487480.1:n.4396-4A>G | ||
| ENST00000634080.1:c.621-4A>G | ENSP00000488740.1:n.621-4A>G | |
| NM_005494.2:c.621-4A>G | NP_005485.1:n.621-4A>G | |
| NM_058246.3:c.621-4A>G | NP_490647.1:n.621-4A>G | |
| XM_005249515.2:c.621-4A>G | XP_005249572.1:n.621-4A>G | |
| XM_005249516.2:c.621-4A>G | XP_005249573.1:n.621-4A>G | |
| XM_006715823.1:c.621-4A>G | XP_006715886.1:n.621-4A>G | |
| XM_011515704.1:c.621-4A>G | XP_011514006.1:n.621-4A>G | |
| NM_001363676.1:c.346+18054A>G | NP_001350605.1:n.346+18054A>G | |
| XM_005249515.3:c.621-4A>G | XP_005249572.1:n.621-4A>G | |
| XM_006715823.2:c.621-4A>G | XP_006715886.1:n.621-4A>G | |
| NM_058246.4:c.621-4A>G MANE Select | NP_490647.1:n.621-4A>G | |
| NM_005494.3:c.621-4A>G | NP_005485.1:n.621-4A>G |