Linked Data
ClinVar Variation Id:
1607613
ClinVar RCV Id:
RCV002144705
dbSNP Id:
rs2117006027
gnomAD v4:
7-150958375-C-T
MyVariant Identifiers:
chr7:g.150655463C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958375C>T , CM000669.2:g.150958375C>T | GRCh38 |
| NC_000007.13:g.150655463C>T , CM000669.1:g.150655463C>T | GRCh37 |
| NC_000007.12:g.150286396C>T | NCBI36 |
| NG_008916.1:g.24552G>A , LRG_288:g.24552G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1433G>A | ||
| ENST00000262186.10:c.600G>A MANE Select | ENSP00000262186.5:p.Leu200= | |
| ENST00000262186.9:c.600G>A | ENSP00000262186.5:p.Leu200= | |
| ENST00000430723.4:c.252G>A | ENSP00000387657.4:p.Leu84= | |
| ENST00000532957.5:n.823G>A | ||
| NM_000238.3:c.600G>A , LRG_288t1:c.600G>A | NP_000229.1:p.Leu200= | |
| NM_172056.2:c.600G>A , LRG_288t2:c.600G>A | NP_742053.1:p.Leu200= | |
| XM_011516185.1:c.300G>A | XP_011514487.1:p.Leu100= | |
| XM_011516186.1:c.600G>A | XP_011514488.1:p.Leu200= | |
| XM_011516185.2:c.300G>A | XP_011514487.1:p.Leu100= | |
| XM_011516186.3:c.600G>A | XP_011514488.1:p.Leu200= | |
| XM_017012195.1:c.450G>A | XP_016867684.1:p.Leu150= | |
| XM_017012196.1:c.423G>A | XP_016867685.1:p.Leu141= | |
| NM_000238.4:c.600G>A MANE Select | NP_000229.1:p.Leu200= |