Linked Data
ClinVar Variation Id:
1533627
ClinVar RCV Id:
RCV002071379
dbSNP Id:
rs2126617181
gnomAD v4:
4-145639289-T-C
MyVariant Identifiers:
chr4:g.146560441T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.145639289T>C , CM000666.2:g.145639289T>C | GRCh38 |
| NC_000004.11:g.146560441T>C , CM000666.1:g.146560441T>C | GRCh37 |
| NC_000004.10:g.146779891T>C | NCBI36 |
| NG_007536.1:g.24992T>C | |
| NG_007536.2:g.45248T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541599.5:c.150T>C | ENSP00000442284.3:p.His50= | |
| ENST00000647947.1:c.150T>C | ENSP00000496781.1:p.His50= | |
| ENST00000648388.1:c.150T>C | ENSP00000497046.1:p.His50= | |
| ENST00000649156.2:c.150T>C MANE Select | ENSP00000497008.1:p.His50= | |
| ENST00000649173.1:c.150T>C | ENSP00000497871.1:p.His50= | |
| ENST00000649704.1:c.150T>C | ENSP00000497680.1:p.His50= | |
| ENST00000679563.1:c.150T>C | ENSP00000506503.1:p.His50= | |
| ENST00000679930.1:c.150T>C | ENSP00000506293.1:p.His50= | |
| ENST00000281317.9:c.150T>C | ENSP00000281317.5:p.His50= | |
| ENST00000506919.1:n.638T>C | ||
| ENST00000511969.4:c.150T>C | ENSP00000427422.1:p.His50= | |
| ENST00000541599.4:c.150T>C | ENSP00000442284.2:p.His50= | |
| NM_172250.2:c.150T>C | NP_758454.1:p.His50= | |
| XM_011531684.1:c.150T>C | XP_011529986.1:p.His50= | |
| XM_011531685.1:c.150T>C | XP_011529987.1:p.His50= | |
| NM_172250.3:c.150T>C MANE Select | NP_758454.1:p.His50= | |
| XM_011531684.3:c.150T>C | XP_011529986.1:p.His50= | |
| XM_011531685.2:c.150T>C | XP_011529987.1:p.His50= | |
| XM_011531686.2:c.-634T>C | XP_011529988.1:n.-634T>C | |
| NM_001375644.1:c.150T>C | NP_001362573.1:p.His50= |