Linked Data
ClinVar Variation Id:
436446
ClinVar RCV Id:
RCV000501992
RCV000522823
RCV001112242
RCV001112241
RCV001112243
RCV002367691
RCV003316649
dbSNP Id:
rs532529560
ExAC:
12:112920006 A / G
gnomAD v2:
12-112920006-A-G
gnomAD v3:
12-112482202-A-G
gnomAD v4:
12-112482202-A-G
ERepo:
CA6798737/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112482202A>G , CM000674.2:g.112482202A>G | GRCh38 |
| NC_000012.11:g.112920006A>G , CM000674.1:g.112920006A>G | GRCh37 |
| NC_000012.10:g.111404389A>G | NCBI36 |
| NG_007459.1:g.68471A>G , LRG_614:g.68471A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1221A>G | ENSP00000491593.2:p.Gly407= | |
| ENST00000685487.1:c.1221A>G | ENSP00000508503.1:p.Gly407= | |
| ENST00000687906.1:c.1107A>G | ENSP00000509536.1:p.Gly369= | |
| ENST00000688597.1:c.1221A>G | ENSP00000510628.1:p.Gly407= | |
| ENST00000690210.1:c.1221A>G | ENSP00000509272.1:p.Gly407= | |
| ENST00000690472.1:n.430A>G | ||
| ENST00000692624.1:c.1221A>G | ENSP00000508953.1:p.Gly407= | |
| ENST00000351677.7:c.1221A>G MANE Select | ENSP00000340944.3:p.Gly407= | |
| ENST00000351677.6:c.1221A>G | ENSP00000340944.2:p.Gly407= | |
| ENST00000392597.5:c.1221A>G | ENSP00000376376.1:p.Gly407= | |
| ENST00000635625.1:c.1221A>G | ENSP00000489597.1:p.Gly407= | |
| ENST00000635652.1:c.213A>G | ENSP00000489541.1:p.Gly71= | |
| NM_002834.3:c.1221A>G , LRG_614t1:c.1221A>G | NP_002825.3:p.Gly407= | |
| NM_080601.1:c.1221A>G | NP_542168.1:p.Gly407= | |
| XM_006719526.1:c.1221A>G | XP_006719589.1:p.Gly407= | |
| XM_006719527.1:c.1107A>G | XP_006719590.1:p.Gly369= | |
| XM_011538613.1:c.1218A>G | XP_011536915.1:p.Gly406= | |
| NM_001330437.1:c.1221A>G | NP_001317366.1:p.Gly407= | |
| NM_002834.4:c.1221A>G | NP_002825.3:p.Gly407= | |
| NM_080601.2:c.1221A>G | NP_542168.1:p.Gly407= | |
| XM_011538613.2:c.1218A>G | XP_011536915.1:p.Gly406= | |
| XM_017019722.1:c.1218A>G | XP_016875211.1:p.Gly406= | |
| NM_001330437.2:c.1221A>G | NP_001317366.1:p.Gly407= | |
| NM_001374625.1:c.1218A>G | NP_001361554.1:p.Gly406= | |
| NM_002834.5:c.1221A>G MANE Select | NP_002825.3:p.Gly407= | |
| NM_080601.3:c.1221A>G | NP_542168.1:p.Gly407= |