Linked Data
ClinVar Variation Id:
1152196
ClinVar RCV Id:
RCV001493411
dbSNP Id:
rs2117006753
gnomAD v4:
7-150958432-C-T
MyVariant Identifiers:
chr7:g.150655520C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958432C>T , CM000669.2:g.150958432C>T | GRCh38 |
| NC_000007.13:g.150655520C>T , CM000669.1:g.150655520C>T | GRCh37 |
| NC_000007.12:g.150286453C>T | NCBI36 |
| NG_008916.1:g.24495G>A , LRG_288:g.24495G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.1376G>A | ||
| ENST00000262186.10:c.543G>A MANE Select | ENSP00000262186.5:p.Arg181= | |
| ENST00000262186.9:c.543G>A | ENSP00000262186.5:p.Arg181= | |
| ENST00000430723.4:c.235-40G>A | ENSP00000387657.4:n.235-40G>A | |
| ENST00000532957.5:n.766G>A | ||
| NM_000238.3:c.543G>A , LRG_288t1:c.543G>A | NP_000229.1:p.Arg181= | |
| NM_172056.2:c.543G>A , LRG_288t2:c.543G>A | NP_742053.1:p.Arg181= | |
| XM_011516185.1:c.243G>A | XP_011514487.1:p.Arg81= | |
| XM_011516186.1:c.543G>A | XP_011514488.1:p.Arg181= | |
| XM_011516185.2:c.243G>A | XP_011514487.1:p.Arg81= | |
| XM_011516186.3:c.543G>A | XP_011514488.1:p.Arg181= | |
| XM_017012195.1:c.393G>A | XP_016867684.1:p.Arg131= | |
| XM_017012196.1:c.366G>A | XP_016867685.1:p.Arg122= | |
| NM_000238.4:c.543G>A MANE Select | NP_000229.1:p.Arg181= |