Linked Data
ClinVar Variation Id:
2948703
ClinVar RCV Id:
RCV003809477
dbSNP Id:
rs2136480031
gnomAD v4:
12-13615607-A-G
MyVariant Identifiers:
chr12:g.13768541A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13615607A>G , CM000674.2:g.13615607A>G | GRCh38 |
| NC_000012.11:g.13768541A>G , CM000674.1:g.13768541A>G | GRCh37 |
| NC_000012.10:g.13659808A>G | NCBI36 |
| NG_031854.1:g.369482T>C | |
| NG_031854.2:g.371406T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.1386T>C MANE Select | ENSP00000477455.1:p.Ile462= | |
| ENST00000630791.2:c.1386T>C | ENSP00000486677.2:p.Ile462= | |
| ENST00000609686.3:c.1386T>C | ENSP00000477455.1:p.Ile462= | |
| NM_000834.3:c.1386T>C | NP_000825.2:p.Ile462= | |
| XM_011520628.1:c.1386T>C | XP_011518930.1:p.Ile462= | |
| XM_011520629.1:c.1386T>C | XP_011518931.1:p.Ile462= | |
| XM_011520630.1:c.1386T>C | XP_011518932.1:p.Ile462= | |
| XR_931372.1:n.307+381A>G | ||
| XR_931373.1:n.447+381A>G | ||
| XR_931374.1:n.246+381A>G | ||
| NM_000834.4:c.1386T>C | NP_000825.2:p.Ile462= | |
| XM_011520628.2:c.1386T>C | XP_011518930.1:p.Ile462= | |
| XM_011520629.2:c.1386T>C | XP_011518931.1:p.Ile462= | |
| XM_017019219.2:c.1386T>C | XP_016874708.1:p.Ile462= | |
| XR_001749013.1:n.728+381A>G | ||
| XR_931372.2:n.444+381A>G | ||
| XR_931373.2:n.586+381A>G | ||
| NM_000834.5:c.1386T>C MANE Select | NP_000825.2:p.Ile462= |