Linked Data
ClinVar Variation Id:
143862
dbSNP Id:
rs587777610
gnomAD v2:
5-138860432-C-T
gnomAD v3:
5-139480847-C-T
gnomAD v4:
5-139480847-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139480847C>T , CM000667.2:g.139480847C>T | GRCh38 |
| NC_000005.9:g.138860432C>T , CM000667.1:g.138860432C>T | GRCh37 |
| NC_000005.8:g.138840616C>T | NCBI36 |
| NG_034249.1:g.6944G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330794.9:c.463G>A MANE Select | ENSP00000331288.4:p.Val155Met | |
| ENST00000502362.2:n.1238G>A | ||
| ENST00000510817.2:c.463G>A | ENSP00000427455.2:p.Val155Met | |
| ENST00000511886.6:n.1405G>A | ||
| ENST00000512606.6:n.699G>A | ||
| ENST00000514119.6:n.682G>A | ||
| ENST00000650883.1:c.106G>A | ENSP00000499142.1:p.Val36Met | |
| ENST00000651565.1:c.106G>A | ENSP00000498768.1:p.Val36Met | |
| ENST00000651699.1:c.463G>A | ENSP00000499166.1:p.Val155Met | |
| ENST00000652110.1:c.463G>A | ENSP00000498513.1:p.Val155Met | |
| ENST00000652271.1:c.463G>A | ENSP00000498596.1:p.Val155Met | |
| ENST00000652543.1:c.106G>A | ENSP00000498683.1:p.Val36Met | |
| ENST00000330794.8:c.463G>A | ENSP00000331288.4:p.Val155Met | |
| ENST00000502825.1:n.241G>A | ||
| ENST00000503287.5:n.355G>A | ||
| ENST00000503838.1:n.503G>A | ||
| ENST00000507297.5:n.1100G>A | ||
| ENST00000509573.5:n.262G>A | ||
| ENST00000510817.1:c.463G>A | ENSP00000427455.1:p.Val155Met | |
| ENST00000511850.1:n.685G>A | ||
| ENST00000511886.5:n.469G>A | ||
| ENST00000512606.5:n.388G>A | ||
| ENST00000514119.5:n.900G>A | ||
| ENST00000515507.5:n.509G>A | ||
| NM_001301738.1:c.463G>A | NP_001288667.1:p.Val155Met | |
| NM_198282.3:c.463G>A | NP_938023.1:p.Val155Met | |
| XM_005268445.2:c.463G>A | XP_005268502.1:p.Val155Met | |
| XM_011537639.1:c.463G>A | XP_011535941.1:p.Val155Met | |
| XM_011537640.1:c.106G>A | XP_011535942.1:p.Val36Met | |
| XM_005268445.4:c.463G>A | XP_005268502.1:p.Val155Met | |
| XM_011537639.3:c.463G>A | XP_011535941.1:p.Val155Met | |
| XM_011537640.2:c.106G>A | XP_011535942.1:p.Val36Met | |
| NM_001301738.2:c.463G>A | NP_001288667.1:p.Val155Met | |
| NM_001367258.1:c.106G>A | NP_001354187.1:p.Val36Met | |
| NM_198282.4:c.463G>A MANE Select | NP_938023.1:p.Val155Met |