Linked Data
ClinVar Variation Id:
1481206
ClinVar RCV Id:
RCV002000491
dbSNP Id:
rs1305192006
gnomAD v3:
6-129315492-A-G
gnomAD v4:
6-129315492-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129315492A>G , CM000668.2:g.129315492A>G | GRCh38 |
| NC_000006.11:g.129636637A>G , CM000668.1:g.129636637A>G | GRCh37 |
| NC_000006.10:g.129678330A>G | NCBI36 |
| NG_008678.1:g.437352A>G , LRG_409:g.437352A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.3572A>G | ENSP00000481744.2:p.Glu1191Gly | |
| ENST00000618192.5:c.3836A>G | ENSP00000480802.2:p.Glu1279Gly | |
| ENST00000421865.3:c.3572A>G MANE Select | ENSP00000400365.2:p.Glu1191Gly | |
| ENST00000421865.2:c.3572A>G | ENSP00000400365.2:p.Glu1191Gly | |
| ENST00000617695.4:c.3572A>G | ENSP00000481744.1:p.Glu1191Gly | |
| ENST00000618192.4:c.3572A>G | ENSP00000480802.1:p.Glu1191Gly | |
| NM_000426.3:c.3572A>G , LRG_409t1:c.3572A>G | NP_000417.2:p.Glu1191Gly | |
| NM_001079823.1:c.3572A>G | NP_001073291.1:p.Glu1191Gly | |
| XM_005266981.2:c.3836A>G | XP_005267038.1:p.Glu1279Gly | |
| XM_005266982.2:c.3836A>G | XP_005267039.1:p.Glu1279Gly | |
| XM_011535820.1:c.3836A>G | XP_011534122.1:p.Glu1279Gly | |
| XM_005266981.3:c.3836A>G | XP_005267038.1:p.Glu1279Gly | |
| XM_005266982.3:c.3836A>G | XP_005267039.1:p.Glu1279Gly | |
| XM_011535820.2:c.3836A>G | XP_011534122.1:p.Glu1279Gly | |
| XM_017010851.2:c.3842A>G | XP_016866340.1:p.Glu1281Gly | |
| XM_017010852.1:c.1967A>G | XP_016866341.1:p.Glu656Gly | |
| XM_017010853.1:c.3836A>G | XP_016866342.1:p.Glu1279Gly | |
| NM_000426.4:c.3572A>G MANE Select | NP_000417.3:p.Glu1191Gly | |
| NM_001079823.2:c.3572A>G | NP_001073291.2:p.Glu1191Gly |