Linked Data
ClinVar Variation Id:
1645561
dbSNP Id:
rs372231104
gnomAD v2:
7-150654400-A-G
gnomAD v3:
7-150957312-A-G
gnomAD v4:
7-150957312-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957312A>G , CM000669.2:g.150957312A>G | GRCh38 |
| NC_000007.13:g.150654400A>G , CM000669.1:g.150654400A>G | GRCh37 |
| NC_000007.12:g.150285333A>G | NCBI36 |
| NG_008916.1:g.25615T>C , LRG_288:g.25615T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1940T>C | ||
| ENST00000262186.10:c.1107T>C MANE Select | ENSP00000262186.5:p.Asn369= | |
| ENST00000262186.9:c.1107T>C | ENSP00000262186.5:p.Asn369= | |
| ENST00000430723.4:c.759T>C | ENSP00000387657.4:p.Asn253= | |
| ENST00000532957.5:n.1330T>C | ||
| NM_000238.3:c.1107T>C , LRG_288t1:c.1107T>C | NP_000229.1:p.Asn369= | |
| NM_172056.2:c.1107T>C , LRG_288t2:c.1107T>C | NP_742053.1:p.Asn369= | |
| XM_011516185.1:c.807T>C | XP_011514487.1:p.Asn269= | |
| XM_011516186.1:c.1107T>C | XP_011514488.1:p.Asn369= | |
| XM_011516185.2:c.807T>C | XP_011514487.1:p.Asn269= | |
| XM_011516186.3:c.1107T>C | XP_011514488.1:p.Asn369= | |
| XM_017012195.1:c.957T>C | XP_016867684.1:p.Asn319= | |
| XM_017012196.1:c.930T>C | XP_016867685.1:p.Asn310= | |
| NM_000238.4:c.1107T>C MANE Select | NP_000229.1:p.Asn369= |