Linked Data
dbSNP Id:
rs140209072
gnomAD v2:
2-141721012-T-TTA
gnomAD v3:
2-140963443-T-TTA
gnomAD v4:
2-140963443-T-TTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.140963459_140963460dup , CM000664.2:g.140963459_140963460dup | GRCh38 |
| NC_000002.11:g.141721028_141721029dup , CM000664.1:g.141721028_141721029dup | GRCh37 |
| NC_000002.10:g.141437498_141437499dup | NCBI36 |
| NG_051023.1:g.1174019_1174020dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389484.8:c.2888-11505_2888-11504dup MANE Select | ENSP00000374135.3:n.2888-11505_2888-11504dup | |
| ENST00000389484.7:c.2888-11505_2888-11504dup | ENSP00000374135.3:n.2888-11505_2888-11504dup | |
| ENST00000434794.1:c.323-11505_323-11504dup | ENSP00000413239.1:n.323-11505_323-11504dup | |
| ENST00000618808.4:c.2546-11505_2546-11504dup | ENSP00000478868.1:n.2546-11505_2546-11504dup | |
| NM_018557.2:c.2888-11505_2888-11504dup | NP_061027.2:n.2888-11505_2888-11504dup | |
| XM_011511352.1:c.2999-11505_2999-11504dup | XP_011509654.1:n.2999-11505_2999-11504dup | |
| XM_017004341.1:c.2498-11505_2498-11504dup | XP_016859830.1:n.2498-11505_2498-11504dup | |
| XR_001738778.1:n.4622-11505_4622-11504dup | ||
| NM_018557.3:c.2888-11505_2888-11504dup MANE Select | NP_061027.2:n.2888-11505_2888-11504dup |