Linked Data
dbSNP Id:
rs201567101
gnomAD v2:
6-105443840-T-TTA
gnomAD v3:
6-104995965-T-TTA
gnomAD v4:
6-104995965-T-TTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.104995980_104995981dup , CM000668.2:g.104995980_104995981dup | GRCh38 |
| NC_000006.11:g.105443855_105443856dup , CM000668.1:g.105443855_105443856dup | GRCh37 |
| NC_000006.10:g.105550548_105550549dup | NCBI36 |
| NG_032815.1:g.43933_43934dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345080.5:c.199-30318_199-30317dup MANE Select | ENSP00000344401.4:n.199-30318_199-30317dup | |
| ENST00000635857.1:c.256-30318_256-30317dup | ENSP00000489735.1:n.256-30318_256-30317dup | |
| ENST00000637759.1:c.223-30318_223-30317dup | ENSP00000490468.1:n.223-30318_223-30317dup | |
| ENST00000345080.4:c.199-30318_199-30317dup | ENSP00000344401.4:n.199-30318_199-30317dup | |
| NM_001004317.3:c.199-30318_199-30317dup | NP_001004317.1:n.199-30318_199-30317dup | |
| XM_006715477.2:c.256-30318_256-30317dup | XP_006715540.2:n.256-30318_256-30317dup | |
| XM_011535818.1:c.223-30318_223-30317dup | XP_011534120.1:n.223-30318_223-30317dup | |
| XM_011535818.3:c.223-30318_223-30317dup | XP_011534120.1:n.223-30318_223-30317dup | |
| NM_001004317.4:c.199-30318_199-30317dup MANE Select | NP_001004317.1:n.199-30318_199-30317dup |