Linked Data
dbSNP Id:
rs3740071
ExAC:
10:101590120 G / A
gnomAD v2:
10-101590120-G-A
gnomAD v4:
10-99830363-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99830363G>A , CM000672.2:g.99830363G>A | GRCh38 |
| NC_000010.10:g.101590120G>A , CM000672.1:g.101590120G>A | GRCh37 |
| NC_000010.9:g.101580110G>A | NCBI36 |
| NG_011798.1:g.52658G>A | |
| NG_011798.2:g.52766G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.2677G>A MANE Select | ENSP00000497274.1:p.Glu893Lys | |
| ENST00000370449.8:c.2677G>A | ENSP00000359478.4:p.Glu893Lys | |
| NM_000392.4:c.2677G>A | NP_000383.1:p.Glu893Lys | |
| XM_006717630.2:c.1981G>A | XP_006717693.1:p.Glu661Lys | |
| XM_006717631.2:c.*104G>A | XP_006717694.1:n.*104G>A | |
| XM_011539291.1:c.2677G>A | XP_011537593.1:p.Glu893Lys | |
| XR_945604.1:n.2866G>A | ||
| XR_945605.1:n.2868G>A | ||
| NM_000392.5:c.2677G>A MANE Select | NP_000383.2:p.Glu893Lys | |
| XM_006717630.3:c.1981G>A | XP_006717693.1:p.Glu661Lys | |
| XM_006717631.4:c.*104G>A | XP_006717694.1:n.*104G>A | |
| XM_011539291.3:c.2677G>A | XP_011537593.1:p.Glu893Lys | |
| XR_945604.3:n.2920G>A | ||
| XR_945605.3:n.2920G>A |