Linked Data
ClinVar Variation Id:
333319
dbSNP Id:
rs186978842
gnomAD v2:
2-20110084-G-T
gnomAD v3:
2-19910323-G-T
gnomAD v4:
2-19910323-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19910323G>T , CM000664.2:g.19910323G>T | GRCh38 |
| NC_000002.11:g.20110084G>T , CM000664.1:g.20110084G>T | GRCh37 |
| NC_000002.10:g.19973565G>T | NCBI36 |
| NG_021212.1:g.84801C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.*3235C>A MANE Select | ENSP00000281405.5:n.*3235C>A | |
| ENST00000345530.8:c.*3235C>A MANE Plus Clinical | ENSP00000314444.5:n.*3235C>A | |
| ENST00000281405.8:c.*3235C>A | ENSP00000281405.4:n.*3235C>A | |
| ENST00000345530.7:c.*3235C>A | ENSP00000314444.5:n.*3235C>A | |
| NM_001006657.1:c.*3235C>A | NP_001006658.1:n.*3235C>A | |
| NM_020779.3:c.*3235C>A | NP_065830.2:n.*3235C>A | |
| XM_011533007.1:c.*3235C>A | XP_011531309.1:n.*3235C>A | |
| XM_011533007.2:c.*3235C>A | XP_011531309.1:n.*3235C>A | |
| XR_426989.3:n.6681C>A | ||
| NM_001006657.2:c.*3235C>A MANE Plus Clinical | NP_001006658.1:n.*3235C>A | |
| NM_020779.4:c.*3235C>A MANE Select | NP_065830.2:n.*3235C>A |