Linked Data
ClinVar Variation Id:
365088
dbSNP Id:
rs368533266
ExAC:
9:130581107 T / G
gnomAD v2:
9-130581107-T-G
gnomAD v3:
9-127818828-T-G
gnomAD v4:
9-127818828-T-G
ERepo:
CA5252800/MONDO:0008535/136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127818828T>G , CM000671.2:g.127818828T>G | GRCh38 |
| NC_000009.11:g.130581107T>G , CM000671.1:g.130581107T>G | GRCh37 |
| NC_000009.10:g.129620928T>G | NCBI36 |
| NG_009551.1:g.40941A>C , LRG_589:g.40941A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.770A>C | ENSP00000479015.1:p.Lys257Thr | |
| ENST00000373203.9:c.1316A>C MANE Select | ENSP00000362299.4:p.Lys439Thr | |
| ENST00000344849.4:c.1316A>C | ENSP00000341917.3:p.Lys439Thr | |
| ENST00000373203.8:c.1316A>C | ENSP00000362299.4:p.Lys439Thr | |
| ENST00000480266.5:c.770A>C | ENSP00000479015.1:p.Lys257Thr | |
| NM_000118.3:c.1316A>C , LRG_589t1:c.1316A>C | NP_000109.1:p.Lys439Thr | |
| NM_001114753.2:c.1316A>C , LRG_589t2:c.1316A>C | NP_001108225.1:p.Lys439Thr | |
| NM_001278138.1:c.770A>C | NP_001265067.1:p.Lys257Thr | |
| NR_136302.1:n.1568+117T>G | ||
| NM_001114753.3:c.1316A>C MANE Select | NP_001108225.1:p.Lys439Thr | |
| NM_001278138.2:c.770A>C | NP_001265067.1:p.Lys257Thr |