Linked Data
dbSNP Id:
rs756224388
ExAC:
12:8814648 G / A
gnomAD v2:
12-8814648-G-A
gnomAD v3:
12-8662052-G-A
gnomAD v4:
12-8662052-G-A
MyVariant Identifiers:
chr12:g.8814648G>A (hg19)
chr12:g.8814648_8814651delinsATGA (hg19)
chr12:g.8662052G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8662052G>A , CM000674.2:g.8662052G>A | GRCh38 |
| NC_000012.11:g.8814648G>A , CM000674.1:g.8814648G>A | GRCh37 |
| NC_000012.10:g.8705915G>A | NCBI36 |
| NG_041814.1:g.5837C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359478.7:c.53C>T MANE Select | ENSP00000352455.2:p.Thr18Ile | |
| ENST00000359478.6:c.53C>T | ENSP00000352455.2:p.Thr18Ile | |
| ENST00000396549.6:c.53C>T | ENSP00000379798.2:p.Thr18Ile | |
| ENST00000433590.6:c.53C>T | ENSP00000411997.2:p.Thr18Ile | |
| ENST00000534833.5:n.104C>T | ||
| ENST00000535336.5:c.53C>T | ENSP00000438525.1:p.Thr18Ile | |
| ENST00000535411.5:c.22C>T | ||
| ENST00000537009.5:c.53C>T | ENSP00000439289.1:p.Thr18Ile | |
| ENST00000537128.1:n.317C>T | ||
| ENST00000538107.5:n.317C>T | ||
| ENST00000540087.5:c.53C>T | ENSP00000440496.1:p.Thr18Ile | |
| ENST00000543369.5:c.53C>T | ENSP00000441492.1:p.Thr18Ile | |
| ENST00000544211.5:c.53C>T | ENSP00000443839.1:p.Thr18Ile | |
| ENST00000544889.1:c.53C>T | ENSP00000445799.1:p.Thr18Ile | |
| NM_001297709.1:c.53C>T | NP_001284638.1:p.Thr18Ile | |
| NM_001297710.1:c.53C>T | NP_001284639.1:p.Thr18Ile | |
| NM_001297711.1:c.53C>T | NP_001284640.1:p.Thr18Ile | |
| NM_001297712.1:c.53C>T | NP_001284641.1:p.Thr18Ile | |
| NM_003480.3:c.53C>T | NP_003471.1:p.Thr18Ile | |
| NR_123733.1:n.317C>T | ||
| NR_123734.1:n.317C>T | ||
| NM_003480.4:c.53C>T MANE Select | NP_003471.1:p.Thr18Ile | |
| NM_001297709.2:c.53C>T | NP_001284638.1:p.Thr18Ile | |
| NM_001297710.2:c.53C>T | NP_001284639.1:p.Thr18Ile | |
| NM_001297711.2:c.53C>T | NP_001284640.1:p.Thr18Ile | |
| NM_001297712.2:c.53C>T | NP_001284641.1:p.Thr18Ile | |
| NR_123733.2:n.255C>T | ||
| NR_123734.2:n.255C>T |