Linked Data
ClinVar Variation Id:
200551
ClinVar RCV Id:
RCV000181928
dbSNP Id:
rs794728408
gnomAD v3:
7-150974882-C-T
gnomAD v4:
7-150974882-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974882C>T , CM000669.2:g.150974882C>T | GRCh38 |
| NC_000007.13:g.150671970C>T , CM000669.1:g.150671970C>T | GRCh37 |
| NC_000007.12:g.150302903C>T | NCBI36 |
| NG_008916.1:g.8045G>A , LRG_288:g.8045G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262186.10:c.136G>A MANE Select | ENSP00000262186.5:p.Asp46Asn | |
| ENST00000262186.9:c.136G>A | ENSP00000262186.5:p.Asp46Asn | |
| ENST00000430723.4:c.-42G>A | ENSP00000387657.4:n.-42G>A | |
| ENST00000532957.5:n.359G>A | ||
| NM_000238.3:c.136G>A , LRG_288t1:c.136G>A | NP_000229.1:p.Asp46Asn | |
| NM_172056.2:c.136G>A , LRG_288t2:c.136G>A | NP_742053.1:p.Asp46Asn | |
| XM_011516186.1:c.136G>A | XP_011514488.1:p.Asp46Asn | |
| XM_011516186.3:c.136G>A | XP_011514488.1:p.Asp46Asn | |
| XM_017012196.1:c.-42G>A | XP_016867685.1:n.-42G>A | |
| NM_000238.4:c.136G>A MANE Select | NP_000229.1:p.Asp46Asn |