Linked Data
dbSNP Id:
rs766707647
ExAC:
19:41916618 T / C
gnomAD v2:
19-41916618-T-C
gnomAD v4:
19-41410713-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41410713T>C , CM000681.2:g.41410713T>C | GRCh38 |
| NC_000019.9:g.41916618T>C , CM000681.1:g.41916618T>C | GRCh37 |
| NC_000019.8:g.46608458T>C | NCBI36 |
| NG_013004.1:g.17925T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.185T>C MANE Select | ENSP00000269980.2:p.Ile62Thr | |
| ENST00000269980.6:c.185T>C | ENSP00000269980.2:p.Ile62Thr | |
| ENST00000457836.6:c.119T>C | ENSP00000416000.2:p.Ile40Thr | |
| ENST00000538423.5:n.205T>C | ||
| ENST00000540732.3:c.287T>C | ENSP00000443246.1:p.Ile96Thr | |
| ENST00000542943.5:c.185T>C | ENSP00000440345.1:p.Ile62Thr | |
| ENST00000595085.5:c.185T>C | ENSP00000471150.2:p.Ile62Thr | |
| ENST00000604424.1:n.427T>C | ||
| NM_000709.3:c.185T>C | NP_000700.1:p.Ile62Thr | |
| NM_001164783.1:c.185T>C | NP_001158255.1:p.Ile62Thr | |
| NM_000709.4:c.185T>C MANE Select | NP_000700.1:p.Ile62Thr | |
| NM_001164783.2:c.185T>C | NP_001158255.1:p.Ile62Thr |