Linked Data
ClinVar Variation Id:
1574960
ClinVar RCV Id:
RCV002073734
dbSNP Id:
rs2110212767
gnomAD v4:
4-99583511-T-C
MyVariant Identifiers:
chr4:g.100504668T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99583511T>C , CM000666.2:g.99583511T>C | GRCh38 |
| NC_000004.11:g.100504668T>C , CM000666.1:g.100504668T>C | GRCh37 |
| NC_000004.10:g.100723691T>C | NCBI36 |
| NG_011469.1:g.24429T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265517.10:c.387T>C MANE Select | ENSP00000265517.5:p.His129= | |
| ENST00000457717.6:c.387T>C | ENSP00000400821.1:p.His129= | |
| ENST00000511045.6:c.138T>C | ENSP00000427679.2:p.His46= | |
| ENST00000265517.9:c.387T>C | ENSP00000265517.5:p.His129= | |
| ENST00000422897.6:c.387T>C | ENSP00000407350.2:p.His129= | |
| ENST00000457717.5:c.387T>C | ENSP00000400821.1:p.His129= | |
| ENST00000506883.5:c.417T>C | ENSP00000426755.1:p.His139= | |
| ENST00000511045.5:c.468T>C | ENSP00000427679.1:p.His156= | |
| ENST00000619629.1:c.387T>C | ENSP00000482850.1:p.His129= | |
| NM_000253.3:c.387T>C | NP_000244.2:p.His129= | |
| NM_001300785.1:c.468T>C | NP_001287714.1:p.His156= | |
| NM_000253.4:c.387T>C | NP_000244.2:p.His129= | |
| NM_001300785.2:c.138T>C | NP_001287714.2:p.His46= | |
| NM_001386140.1:c.387T>C MANE Select | NP_001373069.1:p.His129= |