Linked Data
dbSNP Id:
rs121907894
gnomAD v2:
11-64366051-G-A
gnomAD v3:
11-64598579-G-A
gnomAD v4:
11-64598579-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64598579G>A , CM000673.2:g.64598579G>A | GRCh38 |
| NC_000011.9:g.64366051G>A , CM000673.1:g.64366051G>A | GRCh37 |
| NC_000011.8:g.64122627G>A | NCBI36 |
| NG_008110.1:g.12770G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377574.6:c.894G>A MANE Select | ENSP00000366797.1:p.Glu298= | |
| ENST00000336464.7:c.792G>A | ENSP00000336836.7:p.Glu264= | |
| ENST00000377567.6:c.570G>A | ENSP00000366790.2:p.Glu190= | |
| ENST00000377572.5:c.570G>A | ENSP00000366795.1:p.Glu190= | |
| ENST00000377574.5:c.894G>A | ENSP00000366797.1:p.Glu298= | |
| ENST00000473690.5:c.231G>A | ENSP00000438437.1:p.Glu77= | |
| NM_001276326.1:c.792G>A | NP_001263255.1:p.Glu264= | |
| NM_001276327.1:c.570G>A | NP_001263256.1:p.Glu190= | |
| NM_144585.3:c.894G>A | NP_653186.2:p.Glu298= | |
| NM_153378.2:c.231G>A | NP_700357.1:p.Glu77= | |
| XM_006718430.2:c.969G>A | XP_006718493.1:p.Glu323= | |
| XM_006718431.2:c.864G>A | XP_006718494.1:p.Glu288= | |
| XM_006718430.4:c.969G>A | XP_006718493.1:p.Glu323= | |
| XM_006718431.4:c.864G>A | XP_006718494.1:p.Glu288= | |
| NM_144585.4:c.894G>A MANE Select | NP_653186.2:p.Glu298= | |
| NM_001276326.2:c.792G>A | NP_001263255.1:p.Glu264= | |
| NM_153378.3:c.231G>A | NP_700357.1:p.Glu77= | |
| NM_001276327.2:c.570G>A | NP_001263256.1:p.Glu190= |