Linked Data
dbSNP Id:
rs1974483502
gnomAD v3:
19-38586243-G-GTGGGGTACTAAGTACC
gnomAD v4:
19-38586243-G-GTGGGGTACTAAGTACC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38586243_38586244insTGGGGTACTAAGTACC , CM000681.2:g.38586243_38586244insTGGGGTACTAAGTACC | GRCh38 |
| NC_000019.9:g.39076883_39076884insTGGGGTACTAAGTACC , CM000681.1:g.39076883_39076884insTGGGGTACTAAGTACC | GRCh37 |
| NC_000019.8:g.43768723_43768724insTGGGGTACTAAGTACC | NCBI36 |
| NG_008866.1:g.157544_157545insTGGGGTACTAAGTACC , LRG_766:g.157544_157545insTGGGGTACTAAGTACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1905+52_1905+53insTGGGGTACTAAGTACC | ||
| ENST00000688602.1:c.3302+52_3302+53insTGGGGTACTAAGTACC | ||
| ENST00000689936.1:c.3274+52_3274+53insTGGGGTACTAAGTACC | ||
| ENST00000692547.1:n.362+52_362+53insTGGGGTACTAAGTACC | ||
| ENST00000359596.8:c.14969+52_14969+53insTGGGGTACTAAGTACC MANE Select | ENSP00000352608.2:n.14969+52_14969+53insTGGGGTACTAAGTACC | |
| ENST00000355481.8:c.14954+52_14954+53insTGGGGTACTAAGTACC | ENSP00000347667.3:n.14954+52_14954+53insTGGGGTACTAAGTACC | |
| ENST00000359596.7:c.14969+52_14969+53insTGGGGTACTAAGTACC | ENSP00000352608.2:n.14969+52_14969+53insTGGGGTACTAAGTACC | |
| ENST00000360985.7:c.14951+52_14951+53insTGGGGTACTAAGTACC | ENSP00000354254.4:n.14951+52_14951+53insTGGGGTACTAAGTACC | |
| NM_000540.2:c.14969+52_14969+53insTGGGGTACTAAGTACC , LRG_766t1:c.14969+52_14969+53insTGGGGTACTAAGTACC | NP_000531.2:n.14969+52_14969+53insTGGGGTACTAAGTACC | |
| NM_001042723.1:c.14954+52_14954+53insTGGGGTACTAAGTACC | NP_001036188.1:n.14954+52_14954+53insTGGGGTACTAAGTACC | |
| XM_006723317.1:c.14951+52_14951+53insTGGGGTACTAAGTACC | XP_006723380.1:n.14951+52_14951+53insTGGGGTACTAAGTACC | |
| XM_006723319.1:c.14936+52_14936+53insTGGGGTACTAAGTACC | XP_006723382.1:n.14936+52_14936+53insTGGGGTACTAAGTACC | |
| XM_011527204.1:c.14966+52_14966+53insTGGGGTACTAAGTACC | XP_011525506.1:n.14966+52_14966+53insTGGGGTACTAAGTACC | |
| XM_011527205.1:c.14882+52_14882+53insTGGGGTACTAAGTACC | XP_011525507.1:n.14882+52_14882+53insTGGGGTACTAAGTACC | |
| XM_006723317.2:c.14951+52_14951+53insTGGGGTACTAAGTACC | XP_006723380.1:n.14951+52_14951+53insTGGGGTACTAAGTACC | |
| XM_006723319.2:c.14936+52_14936+53insTGGGGTACTAAGTACC | XP_006723382.1:n.14936+52_14936+53insTGGGGTACTAAGTACC | |
| XM_011527205.2:c.14882+52_14882+53insTGGGGTACTAAGTACC | XP_011525507.1:n.14882+52_14882+53insTGGGGTACTAAGTACC | |
| NM_000540.3:c.14969+52_14969+53insTGGGGTACTAAGTACC MANE Select | NP_000531.2:n.14969+52_14969+53insTGGGGTACTAAGTACC | |
| NM_001042723.2:c.14954+52_14954+53insTGGGGTACTAAGTACC | NP_001036188.1:n.14954+52_14954+53insTGGGGTACTAAGTACC |