Linked Data
dbSNP Id:
rs761766024
ExAC:
19:49206930 CGTG / C
gnomAD v2:
19-49206930-CGTG-C
gnomAD v3:
19-48703673-CGTG-C
gnomAD v4:
19-48703673-CGTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703676_48703678del , CM000681.2:g.48703676_48703678del | GRCh38 |
| NC_000019.9:g.49206933_49206935del , CM000681.1:g.49206933_49206935del | GRCh37 |
| NC_000019.8:g.53898745_53898747del | NCBI36 |
| NG_007511.1:g.12706_12708del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.720_722del MANE Select | ENSP00000387498.2:p.Val241del | |
| ENST00000522966.2:c.720_722del | ENSP00000430227.2:p.Val241del | |
| ENST00000391876.5:c.720_722del | ENSP00000375748.4:p.Val241del | |
| ENST00000425340.2:c.720_722del | ENSP00000387498.2:p.Val241del | |
| NM_000511.5:c.720_722del | NP_000502.4:p.Val241del | |
| NM_001097638.2:c.720_722del | NP_001091107.1:p.Val241del | |
| NR_131188.1:n.173_175del | ||
| NM_000511.6:c.720_722del MANE Select | NP_000502.4:p.Val241del | |
| NM_001097638.3:c.720_722del | NP_001091107.1:p.Val241del |