Linked Data
dbSNP Id:
rs1480013229
gnomAD v2:
6-80878536-A-AGG
gnomAD v3:
6-80168819-A-AGG
gnomAD v4:
6-80168819-A-AGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80168820_80168821insGG , CM000668.2:g.80168820_80168821insGG | GRCh38 |
| NC_000006.11:g.80878537_80878538insGG , CM000668.1:g.80878537_80878538insGG | GRCh37 |
| NC_000006.10:g.80935256_80935257insGG | NCBI36 |
| NG_009775.1:g.67194_67195insGG | |
| NG_009775.2:g.67194_67195insGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.9:c.478-55_478-54insGG MANE Select | ENSP00000318351.5:n.478-55_478-54insGG | |
| ENST00000320393.8:c.478-55_478-54insGG | ENSP00000318351.5:n.478-55_478-54insGG | |
| ENST00000356489.9:c.478-55_478-54insGG | ENSP00000348880.5:n.478-55_478-54insGG | |
| ENST00000369760.8:c.478-55_478-54insGG | ENSP00000358775.4:n.478-55_478-54insGG | |
| NM_000056.3:c.478-55_478-54insGG | NP_000047.1:n.478-55_478-54insGG | |
| NM_183050.2:c.478-55_478-54insGG | NP_898871.1:n.478-55_478-54insGG | |
| XM_005248756.3:c.478-55_478-54insGG | XP_005248813.1:n.478-55_478-54insGG | |
| XM_006715542.2:c.268-55_268-54insGG | XP_006715605.1:n.268-55_268-54insGG | |
| XM_011536023.1:c.478-55_478-54insGG | XP_011534325.1:n.478-55_478-54insGG | |
| XM_011536024.1:c.478-55_478-54insGG | XP_011534326.1:n.478-55_478-54insGG | |
| XM_011536025.1:c.478-55_478-54insGG | XP_011534327.1:n.478-55_478-54insGG | |
| XM_011536026.1:c.268-55_268-54insGG | XP_011534328.1:n.268-55_268-54insGG | |
| XM_011536027.1:c.478-55_478-54insGG | XP_011534329.1:n.478-55_478-54insGG | |
| NM_000056.4:c.478-55_478-54insGG | NP_000047.1:n.478-55_478-54insGG | |
| NM_001318975.1:c.268-55_268-54insGG | NP_001305904.1:n.268-55_268-54insGG | |
| NM_183050.3:c.478-55_478-54insGG | NP_898871.1:n.478-55_478-54insGG | |
| NR_134945.1:n.562-55_562-54insGG | ||
| XM_005248756.5:c.478-55_478-54insGG | XP_005248813.1:n.478-55_478-54insGG | |
| XM_011536023.3:c.478-55_478-54insGG | XP_011534325.1:n.478-55_478-54insGG | |
| XM_011536024.3:c.478-55_478-54insGG | XP_011534326.1:n.478-55_478-54insGG | |
| XM_011536025.3:c.478-55_478-54insGG | XP_011534327.1:n.478-55_478-54insGG | |
| XR_001743546.2:n.508-55_508-54insGG | ||
| XR_001743547.2:n.508-55_508-54insGG | ||
| XR_001743548.2:n.508-55_508-54insGG | ||
| XR_001743549.2:n.508-55_508-54insGG | ||
| XR_002956292.1:n.508-55_508-54insGG | ||
| NM_183050.4:c.478-55_478-54insGG MANE Select | NP_898871.1:n.478-55_478-54insGG | |
| NR_134945.2:n.501-55_501-54insGG | ||
| NM_000056.5:c.478-55_478-54insGG | NP_000047.1:n.478-55_478-54insGG |