Linked Data
dbSNP Id:
rs1303170356
gnomAD v2:
6-24291223-T-TTA
gnomAD v3:
6-24290995-T-TTA
gnomAD v4:
6-24290995-T-TTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290997_24290998dup , CM000668.2:g.24290997_24290998dup | GRCh38 |
| NC_000006.11:g.24291225_24291226dup , CM000668.1:g.24291225_24291226dup | GRCh37 |
| NC_000006.10:g.24399204_24399205dup | NCBI36 |
| NG_012829.1:g.72056_72057dup | |
| NG_012829.2:g.97296_97297dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.639_640dup MANE Select | ENSP00000367715.3:p.Lys214IlefsTer18 | |
| ENST00000378454.7:c.639_640dup | ENSP00000367715.3:p.Lys214IlefsTer18 | |
| NM_001195610.1:c.639_640dup | NP_001182539.1:p.Lys214IlefsTer18 | |
| NM_016356.4:c.639_640dup | NP_057440.2:p.Lys214IlefsTer18 | |
| NM_016356.5:c.639_640dup MANE Select | NP_057440.2:p.Lys214IlefsTer18 | |
| NM_001195610.2:c.639_640dup | NP_001182539.1:p.Lys214IlefsTer18 |