Linked Data
ClinVar Variation Id:
134403
dbSNP Id:
rs587778355
ExAC:
4:1806243 G / A
gnomAD v2:
4-1806243-G-A
gnomAD v3:
4-1804516-G-A
gnomAD v4:
4-1804516-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1804516G>A , CM000666.2:g.1804516G>A | GRCh38 |
| NC_000004.11:g.1806243G>A , CM000666.1:g.1806243G>A | GRCh37 |
| NC_000004.10:g.1776041G>A | NCBI36 |
| NG_012632.1:g.16205G>A , LRG_1021:g.16205G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340107.9:c.1268G>A | ENSP00000339824.4:p.Arg423Gln | |
| ENST00000260795.8:c.*318G>A | ENSP00000260795.3:n.*318G>A | |
| ENST00000352904.6:c.931-308G>A | ENSP00000231803.1:n.931-308G>A | |
| ENST00000412135.7:c.1250G>A | ENSP00000412903.3:p.Arg417Gln | |
| ENST00000440486.8:c.1262G>A MANE Select | ENSP00000414914.2:p.Arg421Gln | |
| ENST00000481110.7:c.1262G>A | ENSP00000420533.2:p.Arg421Gln | |
| ENST00000643463.1:n.413G>A | ||
| ENST00000260795.6:c.1262G>A | ENSP00000260795.2:p.Arg421Gln | |
| ENST00000340107.8:c.1268G>A | ENSP00000339824.4:p.Arg423Gln | |
| ENST00000352904.5:c.931-308G>A | ENSP00000231803.1:n.931-308G>A | |
| ENST00000412135.6:c.931-308G>A | ENSP00000412903.2:n.931-308G>A | |
| ENST00000440486.6:c.1262G>A | ENSP00000414914.2:p.Arg421Gln | |
| ENST00000469068.1:n.25G>A | ||
| ENST00000481110.6:c.1262G>A | ENSP00000420533.2:p.Arg421Gln | |
| ENST00000613647.4:c.*318G>A | ENSP00000479472.1:n.*318G>A | |
| NM_000142.4:c.1262G>A , LRG_1021t1:c.1262G>A | NP_000133.1:p.Arg421Gln | |
| NM_001163213.1:c.1268G>A , LRG_1021t2:c.1268G>A | NP_001156685.1:p.Arg423Gln | |
| NM_022965.3:c.931-308G>A | NP_075254.1:n.931-308G>A | |
| XM_006713868.1:c.1268G>A | XP_006713931.1:p.Arg423Gln | |
| XM_006713869.1:c.1268G>A | XP_006713932.1:p.Arg423Gln | |
| XM_006713870.1:c.1268G>A | XP_006713933.1:p.Arg423Gln | |
| XM_006713871.1:c.1268G>A | XP_006713934.1:p.Arg423Gln | |
| XM_006713872.1:c.1262G>A | XP_006713935.1:p.Arg421Gln | |
| XM_006713873.1:c.1262G>A | XP_006713936.1:p.Arg421Gln | |
| XM_011513420.1:c.1262G>A | XP_011511722.1:p.Arg421Gln | |
| XM_011513422.1:c.1262G>A | XP_011511724.1:p.Arg421Gln | |
| NM_001354809.1:c.1262G>A | NP_001341738.1:p.Arg421Gln | |
| NM_001354810.1:c.1262G>A | NP_001341739.1:p.Arg421Gln | |
| NR_148971.1:n.1669G>A | ||
| NM_001354809.2:c.1262G>A | NP_001341738.1:p.Arg421Gln | |
| NM_001354810.2:c.1262G>A | NP_001341739.1:p.Arg421Gln | |
| NR_148971.2:n.1688G>A | ||
| NM_000142.5:c.1262G>A MANE Select | NP_000133.1:p.Arg421Gln | |
| NM_001163213.2:c.1268G>A | NP_001156685.1:p.Arg423Gln | |
| NM_022965.4:c.931-308G>A | NP_075254.1:n.931-308G>A |