Linked Data
ClinVar Variation Id:
201343
dbSNP Id:
rs794728795
gnomAD v2:
1-237948093-G-A
gnomAD v3:
1-237784793-G-A
gnomAD v4:
1-237784793-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237784793G>A , CM000663.2:g.237784793G>A | GRCh38 |
| NC_000001.10:g.237948093G>A , CM000663.1:g.237948093G>A | GRCh37 |
| NC_000001.9:g.236014716G>A | NCBI36 |
| NG_008799.2:g.747392G>A | |
| NG_008799.3:g.747610G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*4173G>A | ENSP00000499659.2:n.*4173G>A | |
| ENST00000659194.3:c.13069G>A | ENSP00000499653.3:p.Glu4357Lys | |
| ENST00000660292.2:c.13102G>A | ENSP00000499787.2:p.Glu4368Lys | |
| ENST00000659194.2:c.5258G>A | ||
| ENST00000366574.7:c.13081G>A MANE Select | ENSP00000355533.2:p.Glu4361Lys | |
| ENST00000659194.1:c.5258G>A | ||
| ENST00000660292.1:c.3134G>A | ||
| ENST00000360064.7:c.13033G>A | ENSP00000353174.7:p.Glu4345Lys | |
| ENST00000366574.6:c.13081G>A | ENSP00000355533.2:p.Glu4361Lys | |
| ENST00000609119.1:n.4276G>A | ||
| NM_001035.2:c.13081G>A | NP_001026.2:p.Glu4361Lys | |
| XM_006711802.2:c.13135G>A | XP_006711865.1:p.Glu4379Lys | |
| XM_006711803.2:c.13132G>A | XP_006711866.1:p.Glu4378Lys | |
| XM_006711804.2:c.13111G>A | XP_006711867.1:p.Glu4371Lys | |
| XM_006711805.2:c.13105G>A | XP_006711868.1:p.Glu4369Lys | |
| XM_006711806.2:c.13099G>A | XP_006711869.1:p.Glu4367Lys | |
| XM_006711807.2:c.13075G>A | XP_006711870.1:p.Glu4359Lys | |
| XM_006711808.2:c.12898G>A | XP_006711871.1:p.Glu4300Lys | |
| XM_006711810.2:c.13042G>A | XP_006711873.1:p.Glu4348Lys | |
| XM_006711802.3:c.13135G>A | XP_006711865.1:p.Glu4379Lys | |
| XM_006711803.3:c.13132G>A | XP_006711866.1:p.Glu4378Lys | |
| XM_006711804.3:c.13111G>A | XP_006711867.1:p.Glu4371Lys | |
| XM_006711805.3:c.13105G>A | XP_006711868.1:p.Glu4369Lys | |
| XM_006711806.3:c.13099G>A | XP_006711869.1:p.Glu4367Lys | |
| XM_006711807.3:c.13075G>A | XP_006711870.1:p.Glu4359Lys | |
| XM_006711808.3:c.12898G>A | XP_006711871.1:p.Glu4300Lys | |
| XM_006711810.3:c.13042G>A | XP_006711873.1:p.Glu4348Lys | |
| XM_017002028.1:c.13114G>A | XP_016857517.1:p.Glu4372Lys | |
| NM_001035.3:c.13081G>A MANE Select | NP_001026.2:p.Glu4361Lys |