Linked Data
ClinVar Variation Id:
348978
dbSNP Id:
rs115810595
gnomAD v2:
4-5564485-G-A
gnomAD v3:
4-5562758-G-A
gnomAD v4:
4-5562758-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5562758G>A , CM000666.2:g.5562758G>A | GRCh38 |
| NC_000004.11:g.5564485G>A , CM000666.1:g.5564485G>A | GRCh37 |
| NC_000004.10:g.5615386G>A | NCBI36 |
| NG_015821.1:g.151791C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.*90C>T MANE Select | ENSP00000342144.5:n.*90C>T | |
| ENST00000310917.6:c.*90C>T | ENSP00000311683.2:n.*90C>T | |
| ENST00000344408.9:c.*90C>T | ENSP00000342144.5:n.*90C>T | |
| ENST00000475313.5:c.3419+2500C>T | ENSP00000431981.1:n.3419+2500C>T | |
| NM_001166136.1:c.*90C>T | NP_001159608.1:n.*90C>T | |
| NM_147127.4:c.*90C>T | NP_667338.3:n.*90C>T | |
| XM_011513392.1:c.*90C>T | XP_011511694.1:n.*90C>T | |
| XM_011513393.1:c.3668+2500C>T | XP_011511695.1:n.3668+2500C>T | |
| XM_011513394.1:c.*90C>T | XP_011511696.1:n.*90C>T | |
| XM_017007736.1:c.*90C>T | XP_016863225.1:n.*90C>T | |
| XM_017007737.1:c.*90C>T | XP_016863226.1:n.*90C>T | |
| XM_017007739.1:c.*90C>T | XP_016863228.1:n.*90C>T | |
| XM_024453893.1:c.*90C>T | XP_024309661.1:n.*90C>T | |
| XR_001741141.1:n.3867C>T | ||
| NM_147127.5:c.*90C>T MANE Select | NP_667338.3:n.*90C>T | |
| NM_001166136.2:c.*90C>T | NP_001159608.1:n.*90C>T |