Linked Data
dbSNP Id:
rs779108027
ExAC:
12:116429446 C / T
gnomAD v2:
12-116429446-C-T
gnomAD v3:
12-115991641-C-T
gnomAD v4:
12-115991641-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115991641C>T , CM000674.2:g.115991641C>T | GRCh38 |
| NC_000012.11:g.116429446C>T , CM000674.1:g.116429446C>T | GRCh37 |
| NC_000012.10:g.114913829C>T | NCBI36 |
| NG_023366.1:g.290546G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.3313G>A MANE Select | ENSP00000281928.3:p.Glu1105Lys | |
| ENST00000549786.2:c.2741G>A | ||
| ENST00000648379.1:n.1681G>A | ||
| ENST00000648737.1:n.3077G>A | ||
| ENST00000648825.1:n.53G>A | ||
| ENST00000648916.1:n.1324G>A | ||
| ENST00000649607.1:c.1497G>A | ||
| ENST00000650226.1:c.3313G>A | ENSP00000496981.1:p.Glu1105Lys | |
| ENST00000281928.7:c.3313G>A | ENSP00000281928.3:p.Glu1105Lys | |
| NM_015335.4:c.3313G>A | NP_056150.1:p.Glu1105Lys | |
| XM_011538080.1:c.3313G>A | XP_011536382.1:p.Glu1105Lys | |
| XM_011538081.1:c.3310G>A | XP_011536383.1:p.Glu1104Lys | |
| XM_011538082.1:c.3283G>A | XP_011536384.1:p.Glu1095Lys | |
| XM_011538080.2:c.3313G>A | XP_011536382.1:p.Glu1105Lys | |
| XM_011538081.2:c.3310G>A | XP_011536383.1:p.Glu1104Lys | |
| XM_011538082.2:c.3283G>A | XP_011536384.1:p.Glu1095Lys | |
| XM_017019090.1:c.3310G>A | XP_016874579.1:p.Glu1104Lys | |
| NM_015335.5:c.3313G>A MANE Select | NP_056150.1:p.Glu1105Lys |