Linked Data
dbSNP Id:
rs749647891
ExAC:
6:139694558 G / GTGC
gnomAD v2:
6-139694558-G-GTGC
gnomAD v3:
6-139373421-G-GTGC
gnomAD v4:
6-139373421-G-GTGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373428_139373430dup , CM000668.2:g.139373428_139373430dup | GRCh38 |
| NC_000006.11:g.139694565_139694567dup , CM000668.1:g.139694565_139694567dup | GRCh37 |
| NC_000006.10:g.139736258_139736260dup | NCBI36 |
| NG_016169.1:g.6225_6227dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.521_523dup MANE Select | ENSP00000356623.2:p.Ser174_Thr175insSer | |
| ENST00000367651.3:c.521_523dup | ENSP00000356623.2:p.Ser174_Thr175insSer | |
| ENST00000536159.2:c.521_523dup | ENSP00000442831.1:p.Ser174_Thr175insSer | |
| ENST00000537332.2:c.536_538dup | ENSP00000444198.2:p.Ser179_Thr180insSer | |
| ENST00000618718.1:c.476+45_476+47dup | ENSP00000479918.1:n.476+45_476+47dup | |
| NM_001168388.2:c.521_523dup | NP_001161860.1:p.Ser174_Thr175insSer | |
| NM_001168389.2:c.536_538dup | NP_001161861.2:p.Ser179_Thr180insSer | |
| NM_006079.4:c.521_523dup | NP_006070.2:p.Ser174_Thr175insSer | |
| NM_006079.5:c.521_523dup MANE Select | NP_006070.2:p.Ser174_Thr175insSer | |
| NM_001168388.3:c.521_523dup | NP_001161860.1:p.Ser174_Thr175insSer | |
| NM_001168389.3:c.536_538dup | NP_001161861.2:p.Ser179_Thr180insSer |