Linked Data
dbSNP Id:
rs1036145
gnomAD v2:
7-150674430-C-T
gnomAD v3:
7-150977342-C-T
gnomAD v4:
7-150977342-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150977342C>T , CM000669.2:g.150977342C>T | GRCh38 |
| NC_000007.13:g.150674430C>T , CM000669.1:g.150674430C>T | GRCh37 |
| NC_000007.12:g.150305363C>T | NCBI36 |
| NG_008916.1:g.5585G>A , LRG_288:g.5585G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262186.10:c.76+496G>A MANE Select | ENSP00000262186.5:n.76+496G>A | |
| ENST00000262186.9:c.76+496G>A | ENSP00000262186.5:n.76+496G>A | |
| ENST00000430723.4:c.-102+496G>A | ENSP00000387657.4:n.-102+496G>A | |
| ENST00000532957.5:n.299+496G>A | ||
| NM_000238.3:c.76+496G>A , LRG_288t1:c.76+496G>A | NP_000229.1:n.76+496G>A | |
| NM_172056.2:c.76+496G>A , LRG_288t2:c.76+496G>A | NP_742053.1:n.76+496G>A | |
| XM_011516186.1:c.76+496G>A | XP_011514488.1:n.76+496G>A | |
| XM_011516186.3:c.76+496G>A | XP_011514488.1:n.76+496G>A | |
| NM_000238.4:c.76+496G>A MANE Select | NP_000229.1:n.76+496G>A |