Linked Data
ClinVar Variation Id:
282121
dbSNP Id:
rs116214830
ExAC:
4:52890286 G / A
gnomAD v2:
4-52890286-G-A
gnomAD v3:
4-52024120-G-A
gnomAD v4:
4-52024120-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52024120G>A , CM000666.2:g.52024120G>A | GRCh38 |
| NC_000004.11:g.52890286G>A , CM000666.1:g.52890286G>A | GRCh37 |
| NC_000004.10:g.52585043G>A | NCBI36 |
| NG_008891.1:g.19200C>T , LRG_204:g.19200C>T | |
| NG_053164.1:g.1192C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.794C>T MANE Select | ENSP00000370839.6:p.Thr265Ile | |
| ENST00000381431.9:c.794C>T | ENSP00000370839.5:p.Thr265Ile | |
| NM_000232.4:c.794C>T , LRG_204t1:c.794C>T | NP_000223.1:p.Thr265Ile | |
| XM_006714049.2:c.497C>T | XP_006714112.1:p.Thr166Ile | |
| XM_011534403.1:c.584C>T | XP_011532705.1:p.Thr195Ile | |
| XM_011534404.1:c.497C>T | XP_011532706.1:p.Thr166Ile | |
| NM_000232.5:c.794C>T MANE Select | NP_000223.1:p.Thr265Ile |