Linked Data
ClinVar Variation Id:
708165
ClinVar RCV Id:
RCV000879375
dbSNP Id:
rs143265397
ExAC:
2:190660537 G / A
gnomAD v2:
2-190660537-G-A
gnomAD v3:
2-189795811-G-A
gnomAD v4:
2-189795811-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189795811G>A , CM000664.2:g.189795811G>A | GRCh38 |
| NC_000002.11:g.190660537G>A , CM000664.1:g.190660537G>A | GRCh37 |
| NC_000002.10:g.190368782G>A | NCBI36 |
| NG_008648.1:g.16727G>A , LRG_221:g.16727G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441310.7:c.175G>A MANE Select | ENSP00000406490.3:p.Glu59Lys | |
| ENST00000639501.1:c.175G>A | ENSP00000491236.1:p.Glu59Lys | |
| ENST00000342075.8:c.175G>A | ENSP00000343888.4:p.Glu59Lys | |
| ENST00000374826.8:c.175G>A | ENSP00000363959.4:p.Glu59Lys | |
| ENST00000409823.7:c.175G>A | ENSP00000387125.3:p.Glu59Lys | |
| ENST00000409985.5:c.175G>A | ENSP00000386623.1:p.Glu59Lys | |
| ENST00000418224.7:c.175G>A | ENSP00000404492.4:p.Glu59Lys | |
| ENST00000420421.1:c.175G>A | ENSP00000391136.1:p.Glu59Lys | |
| ENST00000421722.5:n.261G>A | ||
| ENST00000424059.1:n.175G>A | ||
| ENST00000424307.5:c.132+3870G>A | ENSP00000389938.1:n.132+3870G>A | |
| ENST00000424766.5:c.175G>A | ENSP00000410082.1:p.Glu59Lys | |
| ENST00000432292.7:c.-111+3870G>A | ENSP00000398378.3:n.-111+3870G>A | |
| ENST00000441310.6:c.175G>A | ENSP00000406490.2:p.Glu59Lys | |
| ENST00000447232.6:c.175G>A | ENSP00000401064.2:p.Glu59Lys | |
| ENST00000447734.5:c.132+3870G>A | ENSP00000411151.1:n.132+3870G>A | |
| ENST00000450931.5:c.175G>A | ENSP00000406225.1:p.Glu59Lys | |
| ENST00000618056.4:c.175G>A | ENSP00000480632.1:p.Glu59Lys | |
| ENST00000624204.3:c.-251G>A | ENSP00000485312.1:n.-251G>A | |
| NM_000534.4:c.175G>A , LRG_221t1:c.175G>A | NP_000525.1:p.Glu59Lys | |
| NM_001128143.1:c.175G>A | NP_001121615.1:p.Glu59Lys | |
| NM_001128144.1:c.175G>A | NP_001121616.1:p.Glu59Lys | |
| NM_001289408.1:c.-251G>A | NP_001276337.1:n.-251G>A | |
| NM_001289409.1:c.-111+3870G>A | NP_001276338.1:n.-111+3870G>A | |
| NR_110332.1:n.801G>A | ||
| XM_005246647.2:c.175G>A | XP_005246704.1:p.Glu59Lys | |
| XM_005246649.2:c.175G>A | XP_005246706.1:p.Glu59Lys | |
| XM_011511353.1:c.175G>A | XP_011509655.1:p.Glu59Lys | |
| XM_011511354.1:c.175G>A | XP_011509656.1:p.Glu59Lys | |
| XM_011511355.1:c.132+3870G>A | XP_011509657.1:n.132+3870G>A | |
| XM_011511357.1:c.175G>A | XP_011509659.1:p.Glu59Lys | |
| XR_922951.1:n.339G>A | ||
| NM_001321044.1:c.175G>A | NP_001307973.1:p.Glu59Lys | |
| NM_001321045.1:c.175G>A | NP_001307974.1:p.Glu59Lys | |
| NM_001321046.1:c.132+3870G>A | NP_001307975.1:n.132+3870G>A | |
| NM_001321047.1:c.175G>A | NP_001307976.1:p.Glu59Lys | |
| NM_001321048.1:c.175G>A | NP_001307977.1:p.Glu59Lys | |
| NM_001321049.1:c.175G>A | NP_001307978.1:p.Glu59Lys | |
| NM_001321051.1:c.175G>A | NP_001307980.1:p.Glu59Lys | |
| XM_011511356.3:c.-1149G>A | XP_011509658.1:n.-1149G>A | |
| XM_017004344.1:c.175G>A | XP_016859833.1:p.Glu59Lys | |
| XM_017004345.1:c.132+3870G>A | XP_016859834.1:n.132+3870G>A | |
| XM_017004346.2:c.132+3870G>A | XP_016859835.1:n.132+3870G>A | |
| XM_017004347.1:c.132+3870G>A | XP_016859836.1:n.132+3870G>A | |
| XM_017004348.1:c.175G>A | XP_016859837.1:p.Glu59Lys | |
| XM_017004349.2:c.-1149G>A | XP_016859838.1:n.-1149G>A | |
| XM_017004350.1:c.132+3870G>A | XP_016859839.1:n.132+3870G>A | |
| XM_024452964.1:c.175G>A | XP_024308732.1:p.Glu59Lys | |
| XM_024452965.1:c.175G>A | XP_024308733.1:p.Glu59Lys | |
| XM_024452966.1:c.175G>A | XP_024308734.1:p.Glu59Lys | |
| XM_024452967.1:c.175G>A | XP_024308735.1:p.Glu59Lys | |
| XM_024452968.1:c.-251G>A | XP_024308736.1:n.-251G>A | |
| XM_024452969.1:c.-251G>A | XP_024308737.1:n.-251G>A | |
| XR_001738779.1:n.430G>A | ||
| XR_002959307.1:n.435G>A | ||
| XR_922951.2:n.333G>A | ||
| NM_000534.5:c.175G>A MANE Select | NP_000525.1:p.Glu59Lys | |
| NM_001128143.2:c.175G>A | NP_001121615.1:p.Glu59Lys | |
| NM_001128144.2:c.175G>A | NP_001121616.1:p.Glu59Lys | |
| NM_001321044.2:c.175G>A | NP_001307973.1:p.Glu59Lys | |
| NM_001321045.2:c.175G>A | NP_001307974.1:p.Glu59Lys | |
| NM_001321046.2:c.132+3870G>A | NP_001307975.1:n.132+3870G>A | |
| NM_001321047.2:c.175G>A | NP_001307976.1:p.Glu59Lys | |
| NM_001321048.2:c.175G>A | NP_001307977.1:p.Glu59Lys | |
| NM_001321049.2:c.175G>A | NP_001307978.1:p.Glu59Lys | |
| NR_110332.2:n.436G>A | ||
| NM_001289408.2:c.-251G>A | NP_001276337.1:n.-251G>A | |
| NM_001289409.2:c.-111+3870G>A | NP_001276338.1:n.-111+3870G>A | |
| NM_001321051.2:c.175G>A | NP_001307980.1:p.Glu59Lys |