Linked Data
dbSNP Id:
rs777549758
ExAC:
1:2234845 T / TG
gnomAD v2:
1-2234845-T-TG
gnomAD v3:
1-2303406-T-TG
gnomAD v4:
1-2303406-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2303409dup , CM000663.2:g.2303409dup | GRCh38 |
| NC_000001.10:g.2234848dup , CM000663.1:g.2234848dup | GRCh37 |
| NC_000001.9:g.2224708dup | NCBI36 |
| NG_013084.1:g.79715dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704337.1:n.379+9dup | ||
| ENST00000378536.5:c.1211+9dup MANE Select | ENSP00000367797.4:n.1211+9dup | |
| ENST00000378536.4:c.1211+9dup | ENSP00000367797.4:n.1211+9dup | |
| NM_003036.3:c.1211+9dup | NP_003027.1:n.1211+9dup | |
| XM_005244775.2:c.1211+9dup | XP_005244832.1:n.1211+9dup | |
| XM_005244776.3:c.341+9dup | XP_005244833.1:n.341+9dup | |
| XM_005244775.3:c.1211+9dup | XP_005244832.1:n.1211+9dup | |
| XM_005244776.4:c.341+9dup | XP_005244833.1:n.341+9dup | |
| XM_017002128.1:c.719+9dup | XP_016857617.1:n.719+9dup | |
| NM_003036.4:c.1211+9dup MANE Select | NP_003027.1:n.1211+9dup |