Linked Data
dbSNP Id:
rs11285412
ExAC:
1:218610662 C / CTT
gnomAD v2:
1-218610662-C-CTT
gnomAD v3:
1-218437320-C-CTT
gnomAD v4:
1-218437320-C-CTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218437336_218437337dup , CM000663.2:g.218437336_218437337dup | GRCh38 |
| NC_000001.10:g.218610678_218610679dup , CM000663.1:g.218610678_218610679dup | GRCh37 |
| NC_000001.9:g.216677301_216677302dup | NCBI36 |
| NG_027721.1:g.97003_97004dup | |
| NG_027721.2:g.97003_97004dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366930.9:c.933-7_933-6dup MANE Select | ENSP00000355897.4:n.933-7_933-6dup | |
| ENST00000366929.4:c.1017-7_1017-6dup | ENSP00000355896.4:n.1017-7_1017-6dup | |
| ENST00000366930.8:c.933-7_933-6dup | ENSP00000355897.4:n.933-7_933-6dup | |
| ENST00000479322.1:n.417-7_417-6dup | ||
| NM_001135599.2:c.1017-7_1017-6dup | NP_001129071.1:n.1017-7_1017-6dup | |
| NM_003238.3:c.933-7_933-6dup | NP_003229.1:n.933-7_933-6dup | |
| NM_001135599.3:c.1017-7_1017-6dup | NP_001129071.1:n.1017-7_1017-6dup | |
| NM_003238.4:c.933-7_933-6dup | NP_003229.1:n.933-7_933-6dup | |
| NR_138148.1:n.2236-7_2236-6dup | ||
| NR_138149.1:n.2320-7_2320-6dup | ||
| NM_003238.5:c.933-7_933-6dup | NP_003229.1:n.933-7_933-6dup | |
| NM_003238.6:c.933-7_933-6dup MANE Select | NP_003229.1:n.933-7_933-6dup | |
| NM_001135599.4:c.1017-7_1017-6dup | NP_001129071.1:n.1017-7_1017-6dup | |
| NR_138148.2:n.2184-7_2184-6dup | ||
| NR_138149.2:n.2268-7_2268-6dup |