Linked Data
ClinVar Variation Id:
40538
dbSNP Id:
rs369739920
ExAC:
12:112915717 A / C
gnomAD v2:
12-112915717-A-C
gnomAD v3:
12-112477913-A-C
gnomAD v4:
12-112477913-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112477913A>C , CM000674.2:g.112477913A>C | GRCh38 |
| NC_000012.11:g.112915717A>C , CM000674.1:g.112915717A>C | GRCh37 |
| NC_000012.10:g.111400100A>C | NCBI36 |
| NG_007459.1:g.64182A>C , LRG_614:g.64182A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.990A>C | ENSP00000491593.2:p.Thr330= | |
| ENST00000685487.1:c.990A>C | ENSP00000508503.1:p.Thr330= | |
| ENST00000687906.1:c.876A>C | ENSP00000509536.1:p.Thr292= | |
| ENST00000688597.1:c.990A>C | ENSP00000510628.1:p.Thr330= | |
| ENST00000690210.1:c.990A>C | ENSP00000509272.1:p.Thr330= | |
| ENST00000692624.1:c.990A>C | ENSP00000508953.1:p.Thr330= | |
| ENST00000351677.7:c.990A>C MANE Select | ENSP00000340944.3:p.Thr330= | |
| ENST00000351677.6:c.990A>C | ENSP00000340944.2:p.Thr330= | |
| ENST00000392597.5:c.990A>C | ENSP00000376376.1:p.Thr330= | |
| ENST00000635625.1:c.990A>C | ENSP00000489597.1:p.Thr330= | |
| NM_002834.3:c.990A>C , LRG_614t1:c.990A>C | NP_002825.3:p.Thr330= | |
| NM_080601.1:c.990A>C | NP_542168.1:p.Thr330= | |
| XM_006719526.1:c.990A>C | XP_006719589.1:p.Thr330= | |
| XM_006719527.1:c.876A>C | XP_006719590.1:p.Thr292= | |
| XM_011538613.1:c.987A>C | XP_011536915.1:p.Thr329= | |
| NM_001330437.1:c.990A>C | NP_001317366.1:p.Thr330= | |
| NM_002834.4:c.990A>C | NP_002825.3:p.Thr330= | |
| NM_080601.2:c.990A>C | NP_542168.1:p.Thr330= | |
| XM_011538613.2:c.987A>C | XP_011536915.1:p.Thr329= | |
| XM_017019722.1:c.987A>C | XP_016875211.1:p.Thr329= | |
| NM_001330437.2:c.990A>C | NP_001317366.1:p.Thr330= | |
| NM_001374625.1:c.987A>C | NP_001361554.1:p.Thr329= | |
| NM_002834.5:c.990A>C MANE Select | NP_002825.3:p.Thr330= | |
| NM_080601.3:c.990A>C | NP_542168.1:p.Thr330= |