Linked Data
dbSNP Id:
rs368076455
ExAC:
12:96384212 T / C
gnomAD v2:
12-96384212-T-C
gnomAD v4:
12-95990434-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.95990434T>C , CM000674.2:g.95990434T>C | GRCh38 |
| NC_000012.11:g.96384212T>C , CM000674.1:g.96384212T>C | GRCh37 |
| NC_000012.10:g.94908343T>C | NCBI36 |
| NG_008180.1:g.10860A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261208.8:c.814A>G MANE Select | ENSP00000261208.3:p.Lys272Glu | |
| ENST00000261208.7:c.814A>G | ENSP00000261208.3:p.Lys272Glu | |
| ENST00000538703.5:c.814A>G | ENSP00000440861.1:p.Lys272Glu | |
| ENST00000541929.5:c.190A>G | ENSP00000446364.1:p.Lys64Glu | |
| ENST00000544080.6:c.*243A>G | ENSP00000439385.2:n.*243A>G | |
| ENST00000546999.5:c.*243A>G | ENSP00000447675.1:n.*243A>G | |
| ENST00000549376.1:n.207A>G | ||
| ENST00000551562.1:n.74A>G | ||
| ENST00000552509.5:c.778A>G | ENSP00000450372.1:p.Lys260Glu | |
| NM_001258333.1:c.190A>G | NP_001245262.1:p.Lys64Glu | |
| NM_001258334.1:c.814A>G | NP_001245263.1:p.Lys272Glu | |
| NM_002108.3:c.814A>G | NP_002099.1:p.Lys272Glu | |
| XM_011538249.1:c.4-2194A>G | XP_011536551.1:n.4-2194A>G | |
| XM_011538249.2:c.4-2194A>G | XP_011536551.1:n.4-2194A>G | |
| NM_002108.4:c.814A>G MANE Select | NP_002099.1:p.Lys272Glu | |
| NM_001258334.2:c.814A>G | NP_001245263.1:p.Lys272Glu | |
| NM_001258333.2:c.190A>G | NP_001245262.1:p.Lys64Glu |