Linked Data
ClinVar Variation Id:
1501770
ClinVar RCV Id:
RCV002010810
dbSNP Id:
rs1349439912
gnomAD v2:
6-129636691-G-A
gnomAD v3:
6-129315546-G-A
gnomAD v4:
6-129315546-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129315546G>A , CM000668.2:g.129315546G>A | GRCh38 |
| NC_000006.11:g.129636691G>A , CM000668.1:g.129636691G>A | GRCh37 |
| NC_000006.10:g.129678384G>A | NCBI36 |
| NG_008678.1:g.437406G>A , LRG_409:g.437406G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.3626G>A | ENSP00000481744.2:p.Gly1209Asp | |
| ENST00000618192.5:c.3890G>A | ENSP00000480802.2:p.Gly1297Asp | |
| ENST00000421865.3:c.3626G>A MANE Select | ENSP00000400365.2:p.Gly1209Asp | |
| ENST00000421865.2:c.3626G>A | ENSP00000400365.2:p.Gly1209Asp | |
| ENST00000617695.4:c.3626G>A | ENSP00000481744.1:p.Gly1209Asp | |
| ENST00000618192.4:c.3626G>A | ENSP00000480802.1:p.Gly1209Asp | |
| NM_000426.3:c.3626G>A , LRG_409t1:c.3626G>A | NP_000417.2:p.Gly1209Asp | |
| NM_001079823.1:c.3626G>A | NP_001073291.1:p.Gly1209Asp | |
| XM_005266981.2:c.3890G>A | XP_005267038.1:p.Gly1297Asp | |
| XM_005266982.2:c.3890G>A | XP_005267039.1:p.Gly1297Asp | |
| XM_011535820.1:c.3890G>A | XP_011534122.1:p.Gly1297Asp | |
| XM_005266981.3:c.3890G>A | XP_005267038.1:p.Gly1297Asp | |
| XM_005266982.3:c.3890G>A | XP_005267039.1:p.Gly1297Asp | |
| XM_011535820.2:c.3890G>A | XP_011534122.1:p.Gly1297Asp | |
| XM_017010851.2:c.3896G>A | XP_016866340.1:p.Gly1299Asp | |
| XM_017010852.1:c.2021G>A | XP_016866341.1:p.Gly674Asp | |
| XM_017010853.1:c.3890G>A | XP_016866342.1:p.Gly1297Asp | |
| NM_000426.4:c.3626G>A MANE Select | NP_000417.3:p.Gly1209Asp | |
| NM_001079823.2:c.3626G>A | NP_001073291.2:p.Gly1209Asp |