Linked Data
dbSNP Id:
rs1193121069
gnomAD v2:
2-163132328-G-GT
gnomAD v3:
2-162275818-G-GT
gnomAD v4:
2-162275818-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162275825dup , CM000664.2:g.162275825dup | GRCh38 |
| NC_000002.11:g.163132335dup , CM000664.1:g.163132335dup | GRCh37 |
| NC_000002.10:g.162840581dup | NCBI36 |
| NG_011495.1:g.47711dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*1901+868dup | ENSP00000513228.1:n.*1901+868dup | |
| ENST00000648433.1:c.2187+868dup | ENSP00000496816.1:n.2187+868dup | |
| ENST00000649554.1:n.1914+868dup | ||
| ENST00000649979.2:c.2304+868dup MANE Select | ENSP00000497271.1:n.2304+868dup | |
| ENST00000679938.1:c.1992+868dup | ENSP00000505518.1:n.1992+868dup | |
| ENST00000263642.2:c.2304+868dup | ENSP00000263642.2:n.2304+868dup | |
| NM_022168.3:c.2304+868dup | NP_071451.2:n.2304+868dup | |
| XM_011511628.1:c.1587+868dup | XP_011509930.1:n.1587+868dup | |
| NM_022168.4:c.2304+868dup MANE Select | NP_071451.2:n.2304+868dup |