Linked Data
ClinVar Variation Id:
2214287
ClinVar RCV Id:
RCV004078041
dbSNP Id:
rs375373877
ExAC:
1:228294529 C / T
gnomAD v2:
1-228294529-C-T
gnomAD v3:
1-228106828-C-T
gnomAD v4:
1-228106828-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228106828C>T , CM000663.2:g.228106828C>T | GRCh38 |
| NC_000001.10:g.228294529C>T , CM000663.1:g.228294529C>T | GRCh37 |
| NC_000001.9:g.226361152C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336520.8:c.319G>A MANE Select | ENSP00000337342.3:p.Glu107Lys | |
| ENST00000391867.8:c.319G>A | ENSP00000375740.3:p.Glu107Lys | |
| ENST00000295008.8:c.319G>A | ENSP00000295008.4:p.Glu107Lys | |
| ENST00000336300.9:c.319G>A | ENSP00000337361.5:p.Glu107Lys | |
| ENST00000336520.7:c.319G>A | ENSP00000337342.3:p.Glu107Lys | |
| ENST00000348259.9:c.319G>A | ENSP00000338189.5:p.Glu107Lys | |
| ENST00000366731.9:c.100G>A | ENSP00000355692.6:p.Glu34Lys | |
| ENST00000366732.5:c.100G>A | ENSP00000355693.2:p.Glu34Lys | |
| ENST00000366733.5:c.319G>A | ENSP00000355694.1:p.Glu107Lys | |
| ENST00000366734.5:c.319G>A | ENSP00000355695.1:p.Glu107Lys | |
| ENST00000366735.5:c.319G>A | ENSP00000355696.1:p.Glu107Lys | |
| ENST00000366736.5:c.319G>A | ENSP00000355697.1:p.Glu107Lys | |
| ENST00000366738.5:c.427G>A | ENSP00000355699.1:p.Glu143Lys | |
| ENST00000366739.5:c.319G>A | ENSP00000355700.1:p.Glu107Lys | |
| ENST00000366740.5:c.319G>A | ENSP00000355701.1:p.Glu107Lys | |
| ENST00000366741.5:c.319G>A | ENSP00000355702.1:p.Glu107Lys | |
| ENST00000366742.5:c.319G>A | ENSP00000355703.1:p.Glu107Lys | |
| ENST00000366744.5:c.319G>A | ENSP00000355705.1:p.Glu107Lys | |
| ENST00000366746.7:c.319G>A | ENSP00000355707.3:p.Glu107Lys | |
| ENST00000366747.7:c.319G>A | ENSP00000355708.3:p.Glu107Lys | |
| ENST00000391867.7:c.319G>A | ENSP00000375740.3:p.Glu107Lys | |
| ENST00000430433.5:c.427G>A | ENSP00000403614.1:p.Glu143Lys | |
| ENST00000459783.5:c.100G>A | ENSP00000482290.1:p.Glu34Lys | |
| ENST00000465268.1:n.699G>A | ||
| NM_181441.2:c.319G>A | NP_852106.1:p.Glu107Lys | |
| NM_181454.2:c.319G>A | NP_852119.1:p.Glu107Lys | |
| NM_181455.2:c.319G>A | NP_852120.1:p.Glu107Lys | |
| NM_181456.2:c.319G>A | NP_852121.1:p.Glu107Lys | |
| NM_181462.2:c.427G>A | NP_852127.2:p.Glu143Lys | |
| NM_181463.2:c.319G>A | NP_852128.1:p.Glu107Lys | |
| NM_181464.2:c.319G>A | NP_852129.1:p.Glu107Lys | |
| NM_181465.2:c.319G>A | NP_852130.1:p.Glu107Lys | |
| XM_005273059.2:c.319G>A | XP_005273116.1:p.Glu107Lys | |
| XM_005273060.2:c.319G>A | XP_005273117.1:p.Glu107Lys | |
| XM_005273061.3:c.319G>A | XP_005273118.1:p.Glu107Lys | |
| XM_005273062.2:c.319G>A | XP_005273119.1:p.Glu107Lys | |
| XM_005273063.3:c.319G>A | XP_005273120.1:p.Glu107Lys | |
| XM_006711748.2:c.319G>A | XP_006711811.1:p.Glu107Lys | |
| XM_011544094.1:c.319G>A | XP_011542396.1:p.Glu107Lys | |
| XM_011544095.1:c.319G>A | XP_011542397.1:p.Glu107Lys | |
| XR_949129.1:n.2335G>A | ||
| XR_949130.1:n.2332G>A | ||
| XR_949131.1:n.2339G>A | ||
| XR_949132.1:n.2336G>A | ||
| NM_001321284.1:c.319G>A | NP_001308213.1:p.Glu107Lys | |
| XM_005273059.4:c.319G>A | XP_005273116.1:p.Glu107Lys | |
| XM_005273061.5:c.319G>A | XP_005273118.1:p.Glu107Lys | |
| XM_005273062.3:c.319G>A | XP_005273119.1:p.Glu107Lys | |
| XM_005273063.5:c.319G>A | XP_005273120.1:p.Glu107Lys | |
| XM_011544095.3:c.319G>A | XP_011542397.1:p.Glu107Lys | |
| XM_024453282.1:c.319G>A | XP_024309050.1:p.Glu107Lys | |
| XR_002959480.1:n.3229G>A | ||
| XR_002959481.1:n.3132G>A | ||
| XR_002959482.1:n.3226G>A | ||
| NM_181463.3:c.319G>A MANE Select | NP_852128.1:p.Glu107Lys | |
| NM_001321284.2:c.319G>A | NP_001308213.1:p.Glu107Lys | |
| NM_181441.3:c.319G>A | NP_852106.1:p.Glu107Lys | |
| NM_181454.3:c.319G>A | NP_852119.1:p.Glu107Lys | |
| NM_181455.3:c.319G>A | NP_852120.1:p.Glu107Lys | |
| NM_181456.3:c.319G>A | NP_852121.1:p.Glu107Lys | |
| NM_181462.3:c.427G>A | NP_852127.2:p.Glu143Lys | |
| NM_181464.3:c.319G>A | NP_852129.1:p.Glu107Lys | |
| NM_181465.3:c.319G>A | NP_852130.1:p.Glu107Lys |