Linked Data
ClinVar Variation Id:
348849
dbSNP Id:
rs574951031
gnomAD v2:
4-52887139-C-T
gnomAD v3:
4-52020973-C-T
gnomAD v4:
4-52020973-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52020973C>T , CM000666.2:g.52020973C>T | GRCh38 |
| NC_000004.11:g.52887139C>T , CM000666.1:g.52887139C>T | GRCh37 |
| NC_000004.10:g.52581896C>T | NCBI36 |
| NG_008891.1:g.22347G>A , LRG_204:g.22347G>A | |
| NG_053164.1:g.4339G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.*2984G>A MANE Select | ENSP00000370839.6:n.*2984G>A | |
| ENST00000381431.9:c.*2984G>A | ENSP00000370839.5:n.*2984G>A | |
| NM_000232.4:c.*2984G>A , LRG_204t1:c.*2984G>A | NP_000223.1:n.*2984G>A | |
| XM_006714049.2:c.*2984G>A | XP_006714112.1:n.*2984G>A | |
| XM_011534403.1:c.*2984G>A | XP_011532705.1:n.*2984G>A | |
| XM_011534404.1:c.*2984G>A | XP_011532706.1:n.*2984G>A | |
| NM_000232.5:c.*2984G>A MANE Select | NP_000223.1:n.*2984G>A |