Linked Data
ClinVar Variation Id:
218234
ClinVar RCV Id:
RCV000170554
dbSNP Id:
rs148960463
ExAC:
5:74842932 G / A
gnomAD v2:
5-74842932-G-A
gnomAD v3:
5-75547107-G-A
gnomAD v4:
5-75547107-G-A
PubMed:
PMID:26046662
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.75547107G>A , CM000667.2:g.75547107G>A | GRCh38 |
| NC_000005.9:g.74842932G>A , CM000667.1:g.74842932G>A | GRCh37 |
| NC_000005.8:g.74878688G>A | NCBI36 |
| NG_051590.1:g.40358G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241436.9:c.85G>A MANE Select | ENSP00000241436.4:p.Glu29Lys | |
| ENST00000241436.8:c.85G>A | ENSP00000241436.4:p.Glu29Lys | |
| ENST00000503479.6:c.-63-5365G>A | ENSP00000421997.2:n.-63-5365G>A | |
| ENST00000504026.5:c.85G>A | ENSP00000425075.1:p.Glu29Lys | |
| ENST00000505774.5:c.85G>A | ENSP00000421879.1:p.Glu29Lys | |
| ENST00000505975.5:c.85G>A | ENSP00000424859.1:p.Glu29Lys | |
| ENST00000506928.5:n.122G>A | ||
| ENST00000508526.5:c.85G>A | ENSP00000426853.1:p.Glu29Lys | |
| ENST00000508867.5:n.98G>A | ||
| ENST00000509126.2:c.85G>A | ENSP00000423532.1:p.Glu29Lys | |
| ENST00000510815.6:c.-249-5365G>A | ENSP00000422094.2:n.-249-5365G>A | |
| ENST00000511527.5:c.85G>A | ENSP00000420997.1:p.Glu29Lys | |
| ENST00000514141.5:c.85G>A | ENSP00000423526.1:p.Glu29Lys | |
| ENST00000514296.5:c.85G>A | ENSP00000425208.1:p.Glu29Lys | |
| ENST00000515295.5:c.85G>A | ENSP00000424174.1:p.Glu29Lys | |
| NM_016218.2:c.85G>A | NP_057302.1:p.Glu29Lys | |
| XM_005248534.3:c.85G>A | XP_005248591.1:p.Glu29Lys | |
| XM_005248536.2:c.85G>A | XP_005248593.1:p.Glu29Lys | |
| XM_011543463.1:c.85G>A | XP_011541765.1:p.Glu29Lys | |
| XM_011543464.1:c.85G>A | XP_011541766.1:p.Glu29Lys | |
| XM_011543465.1:c.85G>A | XP_011541767.1:p.Glu29Lys | |
| XM_011543466.1:c.85G>A | XP_011541768.1:p.Glu29Lys | |
| XM_011543467.1:c.-300G>A | XP_011541769.1:n.-300G>A | |
| XM_011543468.1:c.85G>A | XP_011541770.1:p.Glu29Lys | |
| XR_241783.2:n.181G>A | ||
| XR_241784.1:n.181G>A | ||
| XR_948273.1:n.251G>A | ||
| NM_001345921.1:c.-63-5365G>A | NP_001332850.1:n.-63-5365G>A | |
| NM_001345922.1:c.-300G>A | NP_001332851.1:n.-300G>A | |
| NM_016218.3:c.85G>A | NP_057302.1:p.Glu29Lys | |
| NR_144315.1:n.263G>A | ||
| XM_005248534.5:c.85G>A | XP_005248591.1:p.Glu29Lys | |
| XM_011543463.3:c.85G>A | XP_011541765.1:p.Glu29Lys | |
| XM_011543464.3:c.85G>A | XP_011541766.1:p.Glu29Lys | |
| XM_011543467.3:c.-300G>A | XP_011541769.1:n.-300G>A | |
| XM_017009559.2:c.85G>A | XP_016865048.1:p.Glu29Lys | |
| XM_017009560.2:c.85G>A | XP_016865049.1:p.Glu29Lys | |
| XM_017009561.2:c.-63-5365G>A | XP_016865050.1:n.-63-5365G>A | |
| XM_017009563.2:c.-300G>A | XP_016865052.1:n.-300G>A | |
| XR_001742105.2:n.705G>A | ||
| XR_001742107.2:n.705G>A | ||
| XR_001742108.2:n.251G>A | ||
| XR_002956163.1:n.705G>A | ||
| XR_241784.3:n.705G>A | ||
| XR_948273.3:n.251G>A | ||
| NM_001345922.2:c.-300G>A | NP_001332851.1:n.-300G>A | |
| NM_001387110.2:c.85G>A | NP_001374039.1:p.Glu29Lys | |
| NM_001387111.2:c.85G>A | NP_001374040.1:p.Glu29Lys | |
| NM_001387113.2:c.85G>A | NP_001374042.1:p.Glu29Lys | |
| NM_016218.5:c.85G>A | NP_057302.1:p.Glu29Lys | |
| NR_144315.2:n.122G>A | ||
| NR_170559.2:n.162-5365G>A | ||
| NR_170560.2:n.259G>A | ||
| NM_001345922.3:c.-300G>A | NP_001332851.1:n.-300G>A | |
| NM_001387110.3:c.85G>A | NP_001374039.1:p.Glu29Lys | |
| NM_001387111.3:c.85G>A | NP_001374040.1:p.Glu29Lys | |
| NM_001387113.3:c.85G>A | NP_001374042.1:p.Glu29Lys | |
| NM_001395893.1:c.-300G>A | NP_001382822.1:n.-300G>A | |
| NM_001395894.1:c.85G>A | NP_001382823.1:p.Glu29Lys | |
| NM_001395897.1:c.85G>A | NP_001382826.1:p.Glu29Lys | |
| NM_001395899.1:c.85G>A | NP_001382828.1:p.Glu29Lys | |
| NM_001395900.1:c.-63-5365G>A | NP_001382829.1:n.-63-5365G>A | |
| NM_001395901.1:c.85G>A | NP_001382830.1:p.Glu29Lys | |
| NM_016218.6:c.85G>A MANE Select | NP_057302.1:p.Glu29Lys | |
| NR_144315.3:n.122G>A | ||
| NR_170559.3:n.162-5365G>A | ||
| NR_170560.3:n.259G>A |