Linked Data
ClinVar Variation Id:
245622
dbSNP Id:
rs146792012
ExAC:
12:13716059 G / A
gnomAD v2:
12-13716059-G-A
gnomAD v3:
12-13563125-G-A
gnomAD v4:
12-13563125-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13563125G>A , CM000674.2:g.13563125G>A | GRCh38 |
| NC_000012.11:g.13716059G>A , CM000674.1:g.13716059G>A | GRCh37 |
| NC_000012.10:g.13607326G>A | NCBI36 |
| NG_031854.1:g.421964C>T | |
| NG_031854.2:g.423888C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609686.4:c.4113C>T MANE Select | ENSP00000477455.1:p.Tyr1371= | |
| ENST00000637214.1:c.69+45478C>T | ENSP00000489997.1:n.69+45478C>T | |
| ENST00000609686.3:c.4113C>T | ENSP00000477455.1:p.Tyr1371= | |
| ENST00000628166.1:n.2373C>T | ||
| NM_000834.3:c.4113C>T | NP_000825.2:p.Tyr1371= | |
| XM_005253351.2:c.1899C>T | XP_005253408.1:p.Tyr633= | |
| XM_011520628.1:c.4113C>T | XP_011518930.1:p.Tyr1371= | |
| XM_011520629.1:c.4113C>T | XP_011518931.1:p.Tyr1371= | |
| XM_011520630.1:c.4113C>T | XP_011518932.1:p.Tyr1371= | |
| NM_000834.4:c.4113C>T | NP_000825.2:p.Tyr1371= | |
| XM_005253351.3:c.1899C>T | XP_005253408.1:p.Tyr633= | |
| XM_011520628.2:c.4113C>T | XP_011518930.1:p.Tyr1371= | |
| XM_011520629.2:c.4113C>T | XP_011518931.1:p.Tyr1371= | |
| XM_017019219.2:c.4113C>T | XP_016874708.1:p.Tyr1371= | |
| NM_000834.5:c.4113C>T MANE Select | NP_000825.2:p.Tyr1371= |