Linked Data
ClinVar Variation Id:
387796
dbSNP Id:
rs751742049
ExAC:
19:40900484 C / T
gnomAD v2:
19-40900484-C-T
gnomAD v3:
19-40394577-C-T
gnomAD v4:
19-40394577-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40394577C>T , CM000681.2:g.40394577C>T | GRCh38 |
| NC_000019.9:g.40900484C>T , CM000681.1:g.40900484C>T | GRCh37 |
| NC_000019.8:g.45592324C>T | NCBI36 |
| NG_007979.1:g.23788G>A , LRG_265:g.23788G>A | |
| NG_051224.1:g.645G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.3775G>A MANE Select | ENSP00000326018.6:p.Glu1259Lys | |
| ENST00000673881.1:c.3358G>A | ENSP00000501070.1:p.Glu1120Lys | |
| ENST00000674005.2:c.4060G>A | ENSP00000501261.1:p.Glu1354Lys | |
| ENST00000674773.1:c.3358G>A | ENSP00000502579.1:p.Glu1120Lys | |
| ENST00000675517.1:c.3650G>A | ||
| ENST00000676076.1:c.3636G>A | ||
| ENST00000676260.1:c.3737G>A | ||
| ENST00000676316.1:c.3662G>A | ||
| ENST00000291825.11:c.*3980G>A | ENSP00000291825.6:n.*3980G>A | |
| ENST00000324001.7:c.3775G>A | ENSP00000326018.6:p.Glu1259Lys | |
| NM_020956.2:c.*3980G>A , LRG_265t1:c.*3980G>A | NP_066007.1:n.*3980G>A | |
| NM_181882.2:c.3775G>A , LRG_265t2:c.3775G>A | NP_870998.2:p.Glu1259Lys | |
| XM_011527171.1:c.3775G>A | XP_011525473.1:p.Glu1259Lys | |
| XM_011527171.2:c.3775G>A | XP_011525473.1:p.Glu1259Lys | |
| XM_017027046.1:c.3673G>A | XP_016882535.1:p.Glu1225Lys | |
| XM_017027047.1:c.3673G>A | XP_016882536.1:p.Glu1225Lys | |
| NM_181882.3:c.3775G>A MANE Select | NP_870998.2:p.Glu1259Lys |