Linked Data
dbSNP Id:
rs772979825
ExAC:
7:150655373 C / T
gnomAD v2:
7-150655373-C-T
gnomAD v3:
7-150958285-C-T
gnomAD v4:
7-150958285-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958285C>T , CM000669.2:g.150958285C>T | GRCh38 |
| NC_000007.13:g.150655373C>T , CM000669.1:g.150655373C>T | GRCh37 |
| NC_000007.12:g.150286306C>T | NCBI36 |
| NG_008916.1:g.24642G>A , LRG_288:g.24642G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1523G>A | ||
| ENST00000262186.10:c.690G>A MANE Select | ENSP00000262186.5:p.Glu230= | |
| ENST00000262186.9:c.690G>A | ENSP00000262186.5:p.Glu230= | |
| ENST00000430723.4:c.342G>A | ENSP00000387657.4:p.Glu114= | |
| ENST00000532957.5:n.913G>A | ||
| NM_000238.3:c.690G>A , LRG_288t1:c.690G>A | NP_000229.1:p.Glu230= | |
| NM_172056.2:c.690G>A , LRG_288t2:c.690G>A | NP_742053.1:p.Glu230= | |
| XM_011516185.1:c.390G>A | XP_011514487.1:p.Glu130= | |
| XM_011516186.1:c.690G>A | XP_011514488.1:p.Glu230= | |
| XM_011516185.2:c.390G>A | XP_011514487.1:p.Glu130= | |
| XM_011516186.3:c.690G>A | XP_011514488.1:p.Glu230= | |
| XM_017012195.1:c.540G>A | XP_016867684.1:p.Glu180= | |
| XM_017012196.1:c.513G>A | XP_016867685.1:p.Glu171= | |
| NM_000238.4:c.690G>A MANE Select | NP_000229.1:p.Glu230= |