Linked Data
dbSNP Id:
rs778155021
ExAC:
19:49206359 CCT / C
gnomAD v2:
19-49206359-CCT-C
gnomAD v4:
19-48703102-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703104_48703105del , CM000681.2:g.48703104_48703105del | GRCh38 |
| NC_000019.9:g.49206361_49206362del , CM000681.1:g.49206361_49206362del | GRCh37 |
| NC_000019.8:g.53898173_53898174del | NCBI36 |
| NG_007511.1:g.12134_12135del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.148_149del MANE Select | ENSP00000387498.2:p.Ser50AsnfsTer? | |
| ENST00000522966.2:c.148_149del | ENSP00000430227.2:p.Ser50AsnfsTer? | |
| ENST00000391876.5:c.148_149del | ENSP00000375748.4:p.Ser50AsnfsTer? | |
| ENST00000425340.2:c.148_149del | ENSP00000387498.2:p.Ser50AsnfsTer? | |
| ENST00000522966.1:c.148_149del | ENSP00000430227.1:p.Ser50AsnfsTer? | |
| NM_000511.5:c.148_149del | NP_000502.4:p.Ser50AsnfsTer? | |
| NM_001097638.2:c.148_149del | NP_001091107.1:p.Ser50AsnfsTer? | |
| NR_131188.1:n.745_746del | ||
| NM_000511.6:c.148_149del MANE Select | NP_000502.4:p.Ser50AsnfsTer? | |
| NM_001097638.3:c.148_149del | NP_001091107.1:p.Ser50AsnfsTer? |