Linked Data
dbSNP Id:
rs1487310883
gnomAD v2:
16-56997214-T-TG
gnomAD v3:
16-56963302-T-TG
gnomAD v4:
16-56963302-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56963308dup , CM000678.2:g.56963308dup | GRCh38 |
| NC_000016.9:g.56997220dup , CM000678.1:g.56997220dup | GRCh37 |
| NC_000016.8:g.55554721dup | NCBI36 |
| NG_008952.1:g.6386dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200676.8:c.233+184dup MANE Select | ENSP00000200676.3:n.233+184dup | |
| ENST00000200676.7:c.233+184dup | ENSP00000200676.3:n.233+184dup | |
| ENST00000379780.6:c.233+184dup | ENSP00000369106.2:n.233+184dup | |
| ENST00000566128.1:c.38+184dup | ENSP00000456276.1:n.38+184dup | |
| ENST00000569082.1:n.231+184dup | ||
| NM_000078.2:c.233+184dup | NP_000069.2:n.233+184dup | |
| NM_001286085.1:c.233+184dup | NP_001273014.1:n.233+184dup | |
| XM_006721124.2:c.233+184dup | XP_006721187.1:n.233+184dup | |
| XM_006721124.3:c.233+184dup | XP_006721187.1:n.233+184dup | |
| NM_000078.3:c.233+184dup MANE Select | NP_000069.2:n.233+184dup | |
| NM_001286085.2:c.233+184dup | NP_001273014.1:n.233+184dup |