Linked Data
dbSNP Id:
rs370886251
ExAC:
19:49206646 G / A
gnomAD v2:
19-49206646-G-A
gnomAD v3:
19-48703389-G-A
gnomAD v4:
19-48703389-G-A
COSMIC:
COSM4079892
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703389G>A , CM000681.2:g.48703389G>A | GRCh38 |
| NC_000019.9:g.49206646G>A , CM000681.1:g.49206646G>A | GRCh37 |
| NC_000019.8:g.53898458G>A | NCBI36 |
| NG_007511.1:g.12419G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.433G>A MANE Select | ENSP00000387498.2:p.Val145Ile | |
| ENST00000522966.2:c.433G>A | ENSP00000430227.2:p.Val145Ile | |
| ENST00000391876.5:c.433G>A | ENSP00000375748.4:p.Val145Ile | |
| ENST00000425340.2:c.433G>A | ENSP00000387498.2:p.Val145Ile | |
| ENST00000522966.1:c.433G>A | ENSP00000430227.1:p.Val145Ile | |
| NM_000511.5:c.433G>A | NP_000502.4:p.Val145Ile | |
| NM_001097638.2:c.433G>A | NP_001091107.1:p.Val145Ile | |
| NR_131188.1:n.460C>T | ||
| NM_000511.6:c.433G>A MANE Select | NP_000502.4:p.Val145Ile | |
| NM_001097638.3:c.433G>A | NP_001091107.1:p.Val145Ile |