Linked Data
ClinVar Variation Id:
2410136
ClinVar RCV Id:
RCV004243879
dbSNP Id:
rs748750933
ExAC:
19:49206455 C / T
gnomAD v2:
19-49206455-C-T
gnomAD v3:
19-48703198-C-T
gnomAD v4:
19-48703198-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703198C>T , CM000681.2:g.48703198C>T | GRCh38 |
| NC_000019.9:g.49206455C>T , CM000681.1:g.49206455C>T | GRCh37 |
| NC_000019.8:g.53898267C>T | NCBI36 |
| NG_007511.1:g.12228C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.242C>T MANE Select | ENSP00000387498.2:p.Thr81Ile | |
| ENST00000522966.2:c.242C>T | ENSP00000430227.2:p.Thr81Ile | |
| ENST00000391876.5:c.242C>T | ENSP00000375748.4:p.Thr81Ile | |
| ENST00000425340.2:c.242C>T | ENSP00000387498.2:p.Thr81Ile | |
| ENST00000522966.1:c.242C>T | ENSP00000430227.1:p.Thr81Ile | |
| NM_000511.5:c.242C>T | NP_000502.4:p.Thr81Ile | |
| NM_001097638.2:c.242C>T | NP_001091107.1:p.Thr81Ile | |
| NR_131188.1:n.651G>A | ||
| NM_000511.6:c.242C>T MANE Select | NP_000502.4:p.Thr81Ile | |
| NM_001097638.3:c.242C>T | NP_001091107.1:p.Thr81Ile |