Linked Data
dbSNP Id:
rs1306002356
gnomAD v2:
13-113803698-G-GTT
gnomAD v3:
13-113149384-G-GTT
gnomAD v4:
13-113149384-G-GTT
MyVariant Identifiers:
chr13:g.113803698_113803699insTT (hg19)
chr13:g.113149384_113149385insTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113149385_113149386insTT , CM000675.2:g.113149385_113149386insTT | GRCh38 |
| NC_000013.10:g.113803699_113803700insTT , CM000675.1:g.113803699_113803700insTT | GRCh37 |
| NC_000013.9:g.112851700_112851701insTT | NCBI36 |
| NG_009258.1:g.31587_31588insTT , LRG_548:g.31587_31588insTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375559.8:c.1335_1336insTT MANE Select | ENSP00000364709.3:p.Lys446LeufsTer22 | |
| ENST00000375551.7:c.*326_*327insTT | ENSP00000364701.3:n.*326_*327insTT | |
| ENST00000375559.7:c.1335_1336insTT | ENSP00000364709.3:p.Lys446LeufsTer22 | |
| ENST00000409306.5:c.*326_*327insTT | ENSP00000387092.1:n.*326_*327insTT | |
| NM_000504.3:c.1335_1336insTT , LRG_548t1:c.1335_1336insTT | NP_000495.1:p.Lys446LeufsTer22 | |
| NM_001312674.1:c.1203_1204insTT | NP_001299603.1:p.Lys402LeufsTer22 | |
| NM_001312675.1:c.*326_*327insTT | NP_001299604.1:n.*326_*327insTT | |
| NM_000504.4:c.1335_1336insTT MANE Select | NP_000495.1:p.Lys446LeufsTer22 | |
| NM_001312674.2:c.1203_1204insTT | NP_001299603.1:p.Lys402LeufsTer22 | |
| NM_001312675.2:c.*326_*327insTT | NP_001299604.1:n.*326_*327insTT |