Linked Data
dbSNP Id:
rs1174786318
gnomAD v2:
7-116412120-G-GT
gnomAD v3:
7-116772066-G-GT
gnomAD v4:
7-116772066-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116772070dup , CM000669.2:g.116772070dup | GRCh38 |
| NC_000007.13:g.116412124dup , CM000669.1:g.116412124dup | GRCh37 |
| NC_000007.12:g.116199360dup | NCBI36 |
| NG_008996.1:g.104666dup , LRG_662:g.104666dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436117.3:c.*633+81dup | ENSP00000410980.2:n.*633+81dup | |
| ENST00000318493.11:c.3082+81dup | ENSP00000317272.6:n.3082+81dup | |
| ENST00000397752.8:c.3028+81dup MANE Select | ENSP00000380860.3:n.3028+81dup | |
| ENST00000318493.10:c.3082+81dup | ENSP00000317272.6:n.3082+81dup | |
| ENST00000397752.7:c.3028+81dup | ENSP00000380860.3:n.3028+81dup | |
| ENST00000454623.1:c.283+416dup | ENSP00000398140.1:n.283+416dup | |
| NM_000245.2:c.3028+81dup | NP_000236.2:n.3028+81dup | |
| NM_001127500.1:c.3082+81dup , LRG_662t1:c.3082+81dup | NP_001120972.1:n.3082+81dup | |
| XM_006715990.2:c.1738+81dup | XP_006716053.1:n.1738+81dup | |
| XM_006715991.2:c.1738+81dup | XP_006716054.1:n.1738+81dup | |
| XM_011516223.1:c.3085+81dup | XP_011514525.1:n.3085+81dup | |
| NM_000245.3:c.3028+81dup | NP_000236.2:n.3028+81dup | |
| NM_001127500.2:c.3082+81dup | NP_001120972.1:n.3082+81dup | |
| NM_001324402.1:c.1738+81dup | NP_001311331.1:n.1738+81dup | |
| XR_001744772.1:n.3159+81dup | ||
| NM_001127500.3:c.3082+81dup | NP_001120972.1:n.3082+81dup | |
| NM_000245.4:c.3028+81dup MANE Select | NP_000236.2:n.3028+81dup | |
| NM_001324402.2:c.1738+81dup | NP_001311331.1:n.1738+81dup |