Linked Data
ClinVar Variation Id:
1991
ClinVar RCV Id:
RCV000002068
dbSNP Id:
rs121912606
gnomAD v2:
3-93722608-G-A
gnomAD v3:
3-94003764-G-A
gnomAD v4:
3-94003764-G-A
PubMed:
PMID:18674751
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.94003764G>A , CM000665.2:g.94003764G>A | GRCh38 |
| NC_000003.11:g.93722608G>A , CM000665.1:g.93722608G>A | GRCh37 |
| NC_000003.10:g.95205298G>A | NCBI36 |
| NG_017076.1:g.28626G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394222.8:c.236G>A MANE Select | ENSP00000377769.3:p.Arg79Gln | |
| ENST00000475206.3:n.468G>A | ||
| ENST00000486562.2:c.59+23282G>A | ENSP00000505366.1:n.59+23282G>A | |
| ENST00000492165.3:n.518G>A | ||
| ENST00000679404.1:c.161G>A | ENSP00000505252.1:p.Arg54Gln | |
| ENST00000679587.1:c.236G>A | ENSP00000505396.1:p.Arg79Gln | |
| ENST00000679601.1:c.*88G>A | ENSP00000506200.1:n.*88G>A | |
| ENST00000679607.1:c.-458+15053G>A | ENSP00000505148.1:n.-458+15053G>A | |
| ENST00000679654.1:c.252+7080G>A | ENSP00000505178.1:n.252+7080G>A | |
| ENST00000679657.1:c.-33+23282G>A | ENSP00000505494.1:n.-33+23282G>A | |
| ENST00000679666.1:c.8+14648G>A | ENSP00000506469.1:n.8+14648G>A | |
| ENST00000679739.1:c.-74G>A | ENSP00000506703.1:n.-74G>A | |
| ENST00000679872.1:c.185G>A | ENSP00000505607.1:p.Arg62Gln | |
| ENST00000680414.1:c.*88G>A | ENSP00000506063.1:n.*88G>A | |
| ENST00000680430.1:c.485G>A | ENSP00000504943.1:n.485G>A | |
| ENST00000680994.1:n.410+7820G>A | ||
| ENST00000681013.1:c.236G>A | ENSP00000506243.1:p.Arg79Gln | |
| ENST00000681247.1:c.59+23282G>A | ENSP00000505168.1:n.59+23282G>A | |
| ENST00000681380.1:c.236G>A | ENSP00000505402.1:p.Arg79Gln | |
| ENST00000681655.1:c.161G>A | ENSP00000505036.1:p.Arg54Gln | |
| ENST00000303097.11:c.59+23282G>A | ENSP00000306225.7:n.59+23282G>A | |
| ENST00000335438.7:c.*88G>A | ENSP00000335400.3:n.*88G>A | |
| ENST00000394222.7:c.236G>A | ENSP00000377769.3:p.Arg79Gln | |
| ENST00000460371.5:c.130+7820G>A | ENSP00000417263.1:n.130+7820G>A | |
| ENST00000471138.5:c.236G>A | ENSP00000420780.1:p.Arg79Gln | |
| ENST00000475206.2:n.527G>A | ||
| ENST00000486562.1:n.336+7820G>A | ||
| ENST00000492165.2:n.301G>A | ||
| ENST00000535334.5:c.-74G>A | ENSP00000445145.1:n.-74G>A | |
| NM_001174150.1:c.236G>A | NP_001167621.1:p.Arg79Gln | |
| NM_001174151.1:c.-74G>A | NP_001167622.1:n.-74G>A | |
| NM_144996.3:c.59+23282G>A | NP_659433.2:n.59+23282G>A | |
| NM_182896.2:c.236G>A | NP_878899.1:p.Arg79Gln | |
| NR_033427.1:n.415+7820G>A | ||
| XM_006713531.2:c.191G>A | XP_006713594.1:p.Arg64Gln | |
| XM_006713532.2:c.191G>A | XP_006713595.1:p.Arg64Gln | |
| XM_011512532.1:c.200G>A | XP_011510834.1:p.Arg67Gln | |
| XM_011512533.1:c.200G>A | XP_011510835.1:p.Arg67Gln | |
| XM_011512534.1:c.191G>A | XP_011510836.1:p.Arg64Gln | |
| XM_011512535.1:c.161G>A | XP_011510837.1:p.Arg54Gln | |
| XM_011512536.1:c.-74G>A | XP_011510838.1:n.-74G>A | |
| NM_001321328.1:c.191G>A | NP_001308257.1:p.Arg64Gln | |
| NR_135621.1:n.411+7820G>A | ||
| XM_006713532.3:c.191G>A | XP_006713595.1:p.Arg64Gln | |
| XM_011512532.2:c.200G>A | XP_011510834.1:p.Arg67Gln | |
| XM_011512533.2:c.200G>A | XP_011510835.1:p.Arg67Gln | |
| XM_011512534.2:c.191G>A | XP_011510836.1:p.Arg64Gln | |
| XM_011512535.2:c.161G>A | XP_011510837.1:p.Arg54Gln | |
| XM_017005853.1:c.-74G>A | XP_016861342.1:n.-74G>A | |
| NM_001174150.2:c.236G>A MANE Select | NP_001167621.1:p.Arg79Gln | |
| NM_001321328.2:c.191G>A | NP_001308257.1:p.Arg64Gln | |
| NM_144996.4:c.59+23282G>A | NP_659433.2:n.59+23282G>A | |
| NM_182896.3:c.236G>A | NP_878899.1:p.Arg79Gln | |
| NR_033427.2:n.399+7820G>A | ||
| NR_135621.2:n.395+7820G>A | ||
| NM_001174151.2:c.-74G>A | NP_001167622.1:n.-74G>A |