Linked Data
ClinVar Variation Id:
2039445
ClinVar RCV Id:
RCV002899900
dbSNP Id:
rs1282709676
gnomAD v2:
7-150656786-T-G
gnomAD v4:
7-150959698-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150959698T>G , CM000669.2:g.150959698T>G | GRCh38 |
| NC_000007.13:g.150656786T>G , CM000669.1:g.150656786T>G | GRCh37 |
| NC_000007.12:g.150287719T>G | NCBI36 |
| NG_008916.1:g.23229A>C , LRG_288:g.23229A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1179A>C | ||
| ENST00000262186.10:c.346A>C MANE Select | ENSP00000262186.5:p.Lys116Gln | |
| ENST00000262186.9:c.346A>C | ENSP00000262186.5:p.Lys116Gln | |
| ENST00000430723.4:c.169A>C | ENSP00000387657.4:p.Lys57Gln | |
| ENST00000532957.5:n.569A>C | ||
| NM_000238.3:c.346A>C , LRG_288t1:c.346A>C | NP_000229.1:p.Lys116Gln | |
| NM_172056.2:c.346A>C , LRG_288t2:c.346A>C | NP_742053.1:p.Lys116Gln | |
| XM_011516185.1:c.46A>C | XP_011514487.1:p.Lys16Gln | |
| XM_011516186.1:c.346A>C | XP_011514488.1:p.Lys116Gln | |
| XM_011516185.2:c.46A>C | XP_011514487.1:p.Lys16Gln | |
| XM_011516186.3:c.346A>C | XP_011514488.1:p.Lys116Gln | |
| XM_017012195.1:c.196A>C | XP_016867684.1:p.Lys66Gln | |
| XM_017012196.1:c.169A>C | XP_016867685.1:p.Lys57Gln | |
| NM_000238.4:c.346A>C MANE Select | NP_000229.1:p.Lys116Gln |