ClinVar Variation:
dbSNP:
gnomAD v4:
Revel Score:
ENST00000251081
0.697
ENST00000280904 (MANE Select)
0.697
ENST00000438199
0.697
ENST00000399347
0.697
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31080340C>T , CM000680.2:g.31080340C>T | GRCh38 |
| NC_000018.9:g.28660306C>T , CM000680.1:g.28660306C>T | GRCh37 |
| NC_000018.8:g.26914304C>T | NCBI36 |
| NG_008208.2:g.27086G>A , LRG_400:g.27086G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.847G>A | ENSP00000507826.1:p.Glu283Lys | |
| ENST00000251081.8:c.1276G>A | ENSP00000251081.6:p.Glu426Lys | |
| ENST00000280904.11:c.1276G>A MANE Select | ENSP00000280904.6:p.Glu426Lys | |
| ENST00000648081.1:c.847G>A | ENSP00000497441.1:p.Glu283Lys | |
| ENST00000251081.6:c.1276G>A | ENSP00000251081.6:p.Glu426Lys | |
| ENST00000280904.10:c.1276G>A | ENSP00000280904.6:p.Glu426Lys | |
| NM_004949.4:c.1276G>A | NP_004940.1:p.Glu426Lys | |
| NM_024422.4:c.1276G>A | NP_077740.1:p.Glu426Lys | |
| XM_005258206.3:c.847G>A | XP_005258263.1:p.Glu283Lys | |
| XM_005258206.4:c.847G>A | XP_005258263.1:p.Glu283Lys | |
| NM_004949.5:c.1276G>A | NP_004940.1:p.Glu426Lys | |
| NM_024422.6:c.1276G>A MANE Select | NP_077740.1:p.Glu426Lys |