Linked Data
dbSNP Id:
rs35398918
ExAC:
19:49206990 T / TGTG
gnomAD v2:
19-49206990-T-TGTG
gnomAD v3:
19-48703733-T-TGTG
gnomAD v4:
19-48703733-T-TGTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703737_48703739dup , CM000681.2:g.48703737_48703739dup | GRCh38 |
| NC_000019.9:g.49206994_49206996dup , CM000681.1:g.49206994_49206996dup | GRCh37 |
| NC_000019.8:g.53898806_53898808dup | NCBI36 |
| NG_007511.1:g.12767_12769dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.781_783dup MANE Select | ENSP00000387498.2:p.Val261_Phe262insVal | |
| ENST00000522966.2:c.781_783dup | ENSP00000430227.2:p.Val261_Phe262insVal | |
| ENST00000391876.5:c.781_783dup | ENSP00000375748.4:p.Val261_Phe262insVal | |
| ENST00000425340.2:c.781_783dup | ENSP00000387498.2:p.Val261_Phe262insVal | |
| NM_000511.5:c.781_783dup | NP_000502.4:p.Val261_Phe262insVal | |
| NM_001097638.2:c.781_783dup | NP_001091107.1:p.Val261_Phe262insVal | |
| NR_131188.1:n.113_115dup | ||
| NM_000511.6:c.781_783dup MANE Select | NP_000502.4:p.Val261_Phe262insVal | |
| NM_001097638.3:c.781_783dup | NP_001091107.1:p.Val261_Phe262insVal |