Linked Data
ClinVar Variation Id:
301878
ClinVar RCV Id:
RCV000276869
dbSNP Id:
rs117895343
gnomAD v2:
11-101322597-G-A
gnomAD v3:
11-101451866-G-A
gnomAD v4:
11-101451866-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101451866G>A , CM000673.2:g.101451866G>A | GRCh38 |
| NC_000011.9:g.101322597G>A , CM000673.1:g.101322597G>A | GRCh37 |
| NC_000011.8:g.100827807G>A | NCBI36 |
| NG_011476.1:g.137063C>T | |
| NG_011476.2:g.137063C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.*1089C>T MANE Select | ENSP00000340913.3:n.*1089C>T | |
| ENST00000344327.7:c.*1089C>T | ENSP00000340913.3:n.*1089C>T | |
| NM_004621.5:c.*1089C>T | NP_004612.2:n.*1089C>T | |
| XR_947953.1:n.2758G>A | ||
| XM_011542968.3:c.*1089C>T | XP_011541270.1:n.*1089C>T | |
| XM_017018221.2:c.*1089C>T | XP_016873710.1:n.*1089C>T | |
| XR_001747948.2:n.4242C>T | ||
| NM_004621.6:c.*1089C>T MANE Select | NP_004612.2:n.*1089C>T |