Linked Data
ClinVar Variation Id:
504786
dbSNP Id:
rs148454691
ExAC:
2:223158892 C / T
gnomAD v2:
2-223158892-C-T
gnomAD v3:
2-222294173-C-T
gnomAD v4:
2-222294173-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.222294173C>T , CM000664.2:g.222294173C>T | GRCh38 |
| NC_000002.11:g.223158892C>T , CM000664.1:g.223158892C>T | GRCh37 |
| NC_000002.10:g.222867136C>T | NCBI36 |
| NG_011632.1:g.9809G>A | |
| NG_021186.1:g.1027C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258387.6:c.580G>A | ENSP00000258387.5:p.Glu194Lys | |
| ENST00000336840.11:c.580G>A | ENSP00000338767.5:p.Glu194Lys | |
| ENST00000344493.9:c.580G>A | ENSP00000342092.4:p.Glu194Lys | |
| ENST00000350526.9:c.580G>A | ENSP00000343052.4:p.Glu194Lys | |
| ENST00000392070.7:c.580G>A MANE Select | ENSP00000375922.3:p.Glu194Lys | |
| ENST00000644490.1:n.22G>A | ||
| ENST00000647467.1:n.961G>A | ||
| ENST00000258387.5:c.580G>A | ENSP00000258387.5:p.Glu194Lys | |
| ENST00000336840.10:c.580G>A | ENSP00000338767.5:p.Glu194Lys | |
| ENST00000344493.8:c.580G>A | ENSP00000342092.4:p.Glu194Lys | |
| ENST00000350526.8:c.580G>A | ENSP00000343052.4:p.Glu194Lys | |
| ENST00000392069.6:c.580G>A | ENSP00000375921.2:p.Glu194Lys | |
| ENST00000392070.6:c.580G>A | ENSP00000375922.2:p.Glu194Lys | |
| ENST00000409551.7:c.577G>A | ENSP00000386750.3:p.Glu193Lys | |
| ENST00000409828.7:c.580G>A | ENSP00000386817.3:p.Glu194Lys | |
| NM_000438.5:c.580G>A | NP_000429.2:p.Glu194Lys | |
| NM_001127366.2:c.577G>A | NP_001120838.1:p.Glu193Lys | |
| NM_013942.4:c.580G>A | NP_039230.1:p.Glu194Lys | |
| NM_181457.3:c.580G>A | NP_852122.1:p.Glu194Lys | |
| NM_181458.3:c.580G>A | NP_852123.1:p.Glu194Lys | |
| NM_181459.3:c.580G>A | NP_852124.1:p.Glu194Lys | |
| NM_181460.3:c.580G>A | NP_852125.1:p.Glu194Lys | |
| NM_181461.3:c.580G>A | NP_852126.1:p.Glu194Lys | |
| XM_011511278.1:c.724G>A | XP_011509580.1:p.Glu242Lys | |
| XM_011511280.1:c.724G>A | XP_011509582.1:p.Glu242Lys | |
| XM_011511281.1:c.724G>A | XP_011509583.1:p.Glu242Lys | |
| NM_000438.6:c.580G>A | NP_000429.2:p.Glu194Lys | |
| NM_001127366.3:c.577G>A | NP_001120838.1:p.Glu193Lys | |
| NM_013942.5:c.580G>A | NP_039230.1:p.Glu194Lys | |
| NM_181457.4:c.580G>A | NP_852122.1:p.Glu194Lys | |
| NM_181458.4:c.580G>A MANE Select | NP_852123.1:p.Glu194Lys | |
| NM_181459.4:c.580G>A | NP_852124.1:p.Glu194Lys | |
| NM_181460.4:c.580G>A | NP_852125.1:p.Glu194Lys | |
| NM_181461.4:c.580G>A | NP_852126.1:p.Glu194Lys |