Linked Data
dbSNP Id:
rs768621919
gnomAD v2:
1-17355031-G-GT
gnomAD v3:
1-17028536-G-GT
gnomAD v4:
1-17028536-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028537dup , CM000663.2:g.17028537dup | GRCh38 |
| NC_000001.10:g.17355032dup , CM000663.1:g.17355032dup | GRCh37 |
| NC_000001.9:g.17227619dup | NCBI36 |
| NG_012340.1:g.30634dup , LRG_316:g.30634dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.252+63dup | ENSP00000481376.2:n.252+63dup | |
| ENST00000491274.6:c.381+63dup | ENSP00000480482.2:n.381+63dup | |
| ENST00000375499.8:c.423+63dup MANE Select | ENSP00000364649.3:n.423+63dup | |
| ENST00000375499.7:c.423+63dup | ENSP00000364649.3:n.423+63dup | |
| ENST00000463045.2:c.252+63dup | ENSP00000481376.1:n.252+63dup | |
| ENST00000475506.1:n.340+63dup | ||
| ENST00000485515.5:n.357+117dup | ||
| ENST00000491274.5:c.381+63dup | ENSP00000480482.1:n.381+63dup | |
| NM_003000.2:c.423+63dup , LRG_316t1:c.423+63dup | NP_002991.2:n.423+63dup | |
| NM_003000.3:c.423+63dup MANE Select | NP_002991.2:n.423+63dup |