Linked Data
dbSNP Id:
rs1468832352
gnomAD v2:
7-150656914-C-A
gnomAD v3:
7-150959826-C-A
gnomAD v4:
7-150959826-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150959826C>A , CM000669.2:g.150959826C>A | GRCh38 |
| NC_000007.13:g.150656914C>A , CM000669.1:g.150656914C>A | GRCh37 |
| NC_000007.12:g.150287847C>A | NCBI36 |
| NG_008916.1:g.23101G>T , LRG_288:g.23101G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1051G>T | ||
| ENST00000262186.10:c.308-90G>T MANE Select | ENSP00000262186.5:n.308-90G>T | |
| ENST00000262186.9:c.308-90G>T | ENSP00000262186.5:n.308-90G>T | |
| ENST00000430723.4:c.131-90G>T | ENSP00000387657.4:n.131-90G>T | |
| ENST00000532957.5:n.531-90G>T | ||
| NM_000238.3:c.308-90G>T , LRG_288t1:c.308-90G>T | NP_000229.1:n.308-90G>T | |
| NM_172056.2:c.308-90G>T , LRG_288t2:c.308-90G>T | NP_742053.1:n.308-90G>T | |
| XM_011516185.1:c.8-90G>T | XP_011514487.1:n.8-90G>T | |
| XM_011516186.1:c.308-90G>T | XP_011514488.1:n.308-90G>T | |
| XM_011516185.2:c.8-90G>T | XP_011514487.1:n.8-90G>T | |
| XM_011516186.3:c.308-90G>T | XP_011514488.1:n.308-90G>T | |
| XM_017012195.1:c.158-90G>T | XP_016867684.1:n.158-90G>T | |
| XM_017012196.1:c.131-90G>T | XP_016867685.1:n.131-90G>T | |
| NM_000238.4:c.308-90G>T MANE Select | NP_000229.1:n.308-90G>T |