Linked Data
ClinVar Variation Id:
30779
dbSNP Id:
rs387907009
gnomAD v2:
3-121509013-C-A
gnomAD v4:
3-121790166-C-A
COSMIC:
COSM1308460
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121790166C>A , CM000665.2:g.121790166C>A | GRCh38 |
| NC_000003.11:g.121509013C>A , CM000665.1:g.121509013C>A | GRCh37 |
| NC_000003.10:g.122991703C>A | NCBI36 |
| NG_015887.1:g.49914G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310864.11:c.1036G>T MANE Select | ENSP00000311505.6:p.Glu346Ter | |
| ENST00000310864.10:c.1036G>T | ENSP00000311505.6:p.Glu346Ter | |
| ENST00000349820.10:c.637G>T | ENSP00000323756.7:p.Glu213Ter | |
| ENST00000393650.7:c.*14G>T | ENSP00000377261.3:n.*14G>T | |
| NM_001023570.2:c.1036G>T | NP_001018864.2:p.Glu346Ter | |
| NM_001023571.2:c.637G>T | NP_001018865.2:p.Glu213Ter | |
| XM_005247911.2:c.1036G>T | XP_005247968.1:p.Glu346Ter | |
| XM_005247912.1:c.484G>T | XP_005247969.1:p.Glu162Ter | |
| XM_005247913.1:c.1036G>T | XP_005247970.1:p.Glu346Ter | |
| XM_011513335.1:c.484G>T | XP_011511637.1:p.Glu162Ter | |
| XR_924221.1:n.1053G>T | ||
| NM_001023570.3:c.1036G>T | NP_001018864.2:p.Glu346Ter | |
| NM_001023571.3:c.637G>T | NP_001018865.2:p.Glu213Ter | |
| NM_001319107.1:c.1036G>T | NP_001306036.1:p.Glu346Ter | |
| NR_134968.1:n.1140G>T | ||
| XM_005247911.4:c.1036G>T | XP_005247968.1:p.Glu346Ter | |
| XM_005247912.3:c.484G>T | XP_005247969.1:p.Glu162Ter | |
| XM_011513335.3:c.484G>T | XP_011511637.1:p.Glu162Ter | |
| XM_017007537.2:c.484G>T | XP_016863026.1:p.Glu162Ter | |
| XM_017007539.2:c.637G>T | XP_016863028.1:p.Glu213Ter | |
| XM_024453833.1:c.484G>T | XP_024309601.1:p.Glu162Ter | |
| XM_024453834.1:c.484G>T | XP_024309602.1:p.Glu162Ter | |
| XR_001740376.2:n.1164G>T | ||
| XR_001740377.2:n.1164G>T | ||
| XR_001740378.2:n.1054G>T | ||
| XR_001740379.2:n.1054G>T | ||
| XR_001740380.2:n.1054G>T | ||
| XR_001740381.2:n.1054G>T | ||
| NM_001023570.4:c.1036G>T MANE Select | NP_001018864.2:p.Glu346Ter | |
| NM_001023571.4:c.637G>T | NP_001018865.2:p.Glu213Ter | |
| NM_001319107.2:c.1036G>T | NP_001306036.1:p.Glu346Ter | |
| NR_134968.2:n.1121G>T |