Linked Data
ClinVar Variation Id:
356416
dbSNP Id:
rs886061320
gnomAD v2:
6-33160243-G-A
gnomAD v3:
6-33192466-G-A
gnomAD v4:
6-33192466-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33192466G>A , CM000668.2:g.33192466G>A | GRCh38 |
| NC_000006.11:g.33160243G>A , CM000668.1:g.33160243G>A | GRCh37 |
| NC_000006.10:g.33268221G>A | NCBI36 |
| NG_011589.1:g.5003C>T | |
| NG_023374.1:g.13190C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.-226C>T MANE Select | ENSP00000339915.2:n.-226C>T | |
| ENST00000341947.6:c.-226C>T | ENSP00000339915.2:n.-226C>T | |
| ENST00000361917.5:c.-226C>T | ENSP00000355123.1:n.-226C>T | |
| ENST00000374708.8:c.-226C>T | ENSP00000363840.4:n.-226C>T | |
| ENST00000457788.5:c.-226C>T | ENSP00000405520.1:n.-226C>T | |
| NM_001163771.1:c.-226C>T | NP_001157243.1:n.-226C>T | |
| NM_080679.2:c.-226C>T | NP_542410.2:n.-226C>T | |
| NM_080680.2:c.-226C>T | NP_542411.2:n.-226C>T | |
| NM_080681.2:c.-226C>T | NP_542412.2:n.-226C>T | |
| XM_011514298.1:c.-765+559C>T | XP_011512600.1:n.-765+559C>T | |
| XM_017010250.1:c.-67+117C>T | XP_016865739.1:n.-67+117C>T | |
| NM_001163771.2:c.-226C>T | NP_001157243.1:n.-226C>T | |
| NM_080680.3:c.-226C>T MANE Select | NP_542411.2:n.-226C>T | |
| NM_080681.3:c.-226C>T | NP_542412.2:n.-226C>T | |
| NM_080679.3:c.-226C>T | NP_542410.2:n.-226C>T |