Linked Data
dbSNP Id:
rs1346722232
gnomAD v2:
7-150672260-C-A
gnomAD v3:
7-150975172-C-A
gnomAD v4:
7-150975172-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150975172C>A , CM000669.2:g.150975172C>A | GRCh38 |
| NC_000007.13:g.150672260C>A , CM000669.1:g.150672260C>A | GRCh37 |
| NC_000007.12:g.150303193C>A | NCBI36 |
| NG_008916.1:g.7755G>T , LRG_288:g.7755G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.77-231G>T MANE Select | ENSP00000262186.5:n.77-231G>T | |
| ENST00000262186.9:c.77-231G>T | ENSP00000262186.5:n.77-231G>T | |
| ENST00000430723.4:c.-101-231G>T | ENSP00000387657.4:n.-101-231G>T | |
| ENST00000532957.5:n.300-231G>T | ||
| NM_000238.3:c.77-231G>T , LRG_288t1:c.77-231G>T | NP_000229.1:n.77-231G>T | |
| NM_172056.2:c.77-231G>T , LRG_288t2:c.77-231G>T | NP_742053.1:n.77-231G>T | |
| XM_011516186.1:c.77-231G>T | XP_011514488.1:n.77-231G>T | |
| XM_011516186.3:c.77-231G>T | XP_011514488.1:n.77-231G>T | |
| NM_000238.4:c.77-231G>T MANE Select | NP_000229.1:n.77-231G>T |