Linked Data
dbSNP Id:
rs1342874484
gnomAD v2:
19-7116788-G-GA
gnomAD v3:
19-7116777-G-GA
gnomAD v4:
19-7116777-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7116783dup , CM000681.2:g.7116783dup | GRCh38 |
| NC_000019.9:g.7116794dup , CM000681.1:g.7116794dup | GRCh37 |
| NC_000019.8:g.7067794dup | NCBI36 |
| NG_008852.2:g.182223dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.*278dup MANE Select | ENSP00000303830.4:n.*278dup | |
| ENST00000302850.9:c.*278dup | ENSP00000303830.4:n.*278dup | |
| ENST00000341500.9:c.*278dup | ENSP00000342838.4:n.*278dup | |
| NM_000208.2:c.*278dup | NP_000199.2:n.*278dup | |
| NM_000208.3:c.*278dup | NP_000199.2:n.*278dup | |
| NM_001079817.1:c.*278dup | NP_001073285.1:n.*278dup | |
| NM_001079817.2:c.*278dup | NP_001073285.1:n.*278dup | |
| XM_011527988.1:c.*278dup | XP_011526290.1:n.*278dup | |
| XM_011527989.1:c.*278dup | XP_011526291.1:n.*278dup | |
| XM_011527988.2:c.*278dup | XP_011526290.2:n.*278dup | |
| XM_011527989.3:c.*278dup | XP_011526291.2:n.*278dup | |
| NM_000208.4:c.*278dup MANE Select | NP_000199.2:n.*278dup | |
| NM_001079817.3:c.*278dup | NP_001073285.1:n.*278dup |