Linked Data
dbSNP Id:
rs760569858
ExAC:
11:128680491 G / A
gnomAD v2:
11-128680491-G-A
gnomAD v4:
11-128810596-G-A
COSMIC:
COSM3868778
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128810596G>A , CM000673.2:g.128810596G>A | GRCh38 |
| NC_000011.9:g.128680491G>A , CM000673.1:g.128680491G>A | GRCh37 |
| NC_000011.8:g.128185701G>A | NCBI36 |
| NG_032912.1:g.129062G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696982.1:c.988G>A | ENSP00000513017.1:p.Glu330Lys | |
| ENST00000527786.7:c.967G>A MANE Select | ENSP00000433488.2:p.Glu323Lys | |
| ENST00000281428.12:c.769G>A | ENSP00000281428.8:p.Glu257Lys | |
| ENST00000344954.10:c.388G>A | ENSP00000339627.7:p.Glu130Lys | |
| ENST00000429175.7:c.*889G>A | ENSP00000399985.3:n.*889G>A | |
| ENST00000527786.6:c.967G>A | ENSP00000433488.2:p.Glu323Lys | |
| ENST00000528790.1:n.3550G>A | ||
| ENST00000534087.3:c.868G>A | ENSP00000432950.1:p.Glu290Lys | |
| ENST00000608303.5:c.*359G>A | ENSP00000477262.1:n.*359G>A | |
| NM_001167681.2:c.868G>A | NP_001161153.1:p.Glu290Lys | |
| NM_001271010.1:c.769G>A | NP_001257939.1:p.Glu257Lys | |
| NM_001271012.1:c.388G>A | NP_001257941.1:p.Glu130Lys | |
| NM_002017.4:c.967G>A | NP_002008.2:p.Glu323Lys | |
| XM_011542701.1:c.868G>A | XP_011541003.1:p.Glu290Lys | |
| XM_011542702.1:c.841G>A | XP_011541004.1:p.Glu281Lys | |
| XM_011542701.2:c.868G>A | XP_011541003.1:p.Glu290Lys | |
| XM_017017405.1:c.868G>A | XP_016872894.1:p.Glu290Lys | |
| XM_017017406.1:c.868G>A | XP_016872895.1:p.Glu290Lys | |
| NM_002017.5:c.967G>A MANE Select | NP_002008.2:p.Glu323Lys | |
| NM_001167681.3:c.868G>A | NP_001161153.1:p.Glu290Lys | |
| NM_001271010.2:c.769G>A | NP_001257939.1:p.Glu257Lys | |
| NM_001271012.2:c.388G>A | NP_001257941.1:p.Glu130Lys |