Linked Data
ClinVar Variation Id:
935727
dbSNP Id:
rs759966387
ExAC:
4:52894171 A / G
gnomAD v2:
4-52894171-A-G
gnomAD v4:
4-52028005-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028005A>G , CM000666.2:g.52028005A>G | GRCh38 |
| NC_000004.11:g.52894171A>G , CM000666.1:g.52894171A>G | GRCh37 |
| NC_000004.10:g.52588928A>G | NCBI36 |
| NG_008891.1:g.15315T>C , LRG_204:g.15315T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.716T>C MANE Select | ENSP00000370839.6:p.Ile239Thr | |
| ENST00000381431.9:c.716T>C | ENSP00000370839.5:p.Ile239Thr | |
| NM_000232.4:c.716T>C , LRG_204t1:c.716T>C | NP_000223.1:p.Ile239Thr | |
| XM_006714049.2:c.419T>C | XP_006714112.1:p.Ile140Thr | |
| XM_011534403.1:c.506T>C | XP_011532705.1:p.Ile169Thr | |
| XM_011534404.1:c.419T>C | XP_011532706.1:p.Ile140Thr | |
| NM_000232.5:c.716T>C MANE Select | NP_000223.1:p.Ile239Thr |