Linked Data
ClinVar Variation Id:
2177432
ClinVar RCV Id:
RCV002585542
dbSNP Id:
rs1396170863
gnomAD v3:
12-25209864-A-G
gnomAD v4:
12-25209864-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25209864A>G , CM000674.2:g.25209864A>G | GRCh38 |
| NC_000012.11:g.25362798A>G , CM000674.1:g.25362798A>G | GRCh37 |
| NC_000012.10:g.25254065A>G | NCBI36 |
| NG_007524.1:g.46057T>C | |
| NG_007524.2:g.46140T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.159T>C | ENSP00000452512.1:p.His53= | |
| ENST00000685328.1:c.498T>C | ENSP00000508921.1:p.His166= | |
| ENST00000686877.1:c.*469T>C | ENSP00000510431.1:n.*469T>C | |
| ENST00000687356.1:c.*196T>C | ENSP00000510511.1:n.*196T>C | |
| ENST00000688228.1:n.972T>C | ||
| ENST00000688940.1:c.498T>C | ENSP00000509238.1:p.His166= | |
| ENST00000690406.1:c.301T>C | ||
| ENST00000690804.1:c.*459T>C | ENSP00000508568.1:n.*459T>C | |
| ENST00000692768.1:c.300T>C | ENSP00000510254.1:p.His100= | |
| ENST00000693229.1:c.423T>C | ENSP00000509223.1:p.His141= | |
| ENST00000256078.10:c.*52T>C MANE Plus Clinical | ENSP00000256078.5:n.*52T>C | |
| ENST00000311936.8:c.498T>C MANE Select | ENSP00000308495.3:p.His166= | |
| ENST00000256078.8:c.*52T>C | ENSP00000256078.4:n.*52T>C | |
| ENST00000311936.7:c.498T>C | ENSP00000308495.3:p.His166= | |
| ENST00000557334.5:c.159T>C | ENSP00000452512.1:p.His53= | |
| NM_004985.4:c.498T>C | NP_004976.2:p.His166= | |
| NM_033360.3:c.*52T>C | NP_203524.1:n.*52T>C | |
| XM_006719069.2:c.*52T>C | XP_006719132.1:n.*52T>C | |
| XM_011520653.1:c.498T>C | XP_011518955.1:p.His166= | |
| XM_006719069.4:c.*52T>C | XP_006719132.1:n.*52T>C | |
| XM_011520653.3:c.498T>C | XP_011518955.1:p.His166= | |
| NM_001369786.1:c.*52T>C | NP_001356715.1:n.*52T>C | |
| NM_001369787.1:c.498T>C | NP_001356716.1:p.His166= | |
| NM_004985.5:c.498T>C MANE Select | NP_004976.2:p.His166= | |
| NM_033360.4:c.*52T>C MANE Plus Clinical | NP_203524.1:n.*52T>C |