Linked Data
dbSNP Id:
rs150900439
ExAC:
6:18130925 T / C
gnomAD v2:
6-18130925-T-C
gnomAD v3:
6-18130694-T-C
gnomAD v4:
6-18130694-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18130694T>C , CM000668.2:g.18130694T>C | GRCh38 |
| NC_000006.11:g.18130925T>C , CM000668.1:g.18130925T>C | GRCh37 |
| NC_000006.10:g.18238904T>C | NCBI36 |
| NG_012137.2:g.29450A>G | |
| NG_012137.3:g.29450A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309983.5:c.712A>G MANE Select | ENSP00000312304.4:p.Lys238Glu | |
| ENST00000309983.4:c.712A>G | ENSP00000312304.4:p.Lys238Glu | |
| NM_000367.3:c.712A>G | NP_000358.1:p.Lys238Glu | |
| XM_011514839.1:c.667A>G | XP_011513141.1:p.Lys223Glu | |
| XM_011514840.1:c.643A>G | XP_011513142.1:p.Lys215Glu | |
| NM_000367.4:c.712A>G | NP_000358.1:p.Lys238Glu | |
| NM_001346817.1:c.712A>G | NP_001333746.1:p.Lys238Glu | |
| NM_001346818.1:c.667A>G | NP_001333747.1:p.Lys223Glu | |
| NM_000367.5:c.712A>G MANE Select | NP_000358.1:p.Lys238Glu |