Linked Data
ClinVar Variation Id:
1229855
ClinVar RCV Id:
RCV001612203
dbSNP Id:
rs2292884
ExAC:
2:238443226 A / G
gnomAD v2:
2-238443226-A-G
gnomAD v3:
2-237534583-A-G
gnomAD v4:
2-237534583-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237534583A>G , CM000664.2:g.237534583A>G | GRCh38 |
| NC_000002.11:g.238443226A>G , CM000664.1:g.238443226A>G | GRCh37 |
| NC_000002.10:g.238107965A>G | NCBI36 |
| NG_007286.1:g.52297A>G , LRG_83:g.52297A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264605.8:c.1040A>G MANE Select | ENSP00000264605.3:p.His347Arg | |
| ENST00000264605.7:c.1040A>G | ENSP00000264605.3:p.His347Arg | |
| ENST00000338530.8:c.1021-5765A>G | ENSP00000341845.4:n.1021-5765A>G | |
| ENST00000409373.5:c.901-5765A>G | ENSP00000386780.1:n.901-5765A>G | |
| ENST00000410032.5:c.676-5765A>G | ENSP00000386338.1:n.676-5765A>G | |
| ENST00000415753.5:c.102A>G | ||
| ENST00000436965.5:c.267-5765A>G | ||
| ENST00000437893.5:c.320A>G | ENSP00000412438.1:p.His107Arg | |
| ENST00000464123.5:n.1086-5765A>G | ||
| ENST00000468178.5:n.1232-5765A>G | ||
| ENST00000478712.5:n.700-5765A>G | ||
| ENST00000485956.1:n.416A>G | ||
| ENST00000494110.5:n.720A>G | ||
| ENST00000495439.5:n.1398-5765A>G | ||
| NM_001042467.2:c.1021-5765A>G | NP_001035932.1:n.1021-5765A>G | |
| NM_001281473.1:c.901-5765A>G | NP_001268402.1:n.901-5765A>G | |
| NM_001281474.1:c.676-5765A>G | NP_001268403.1:n.676-5765A>G | |
| NM_024101.6:c.1040A>G | NP_077006.1:p.His347Arg | |
| NR_104019.1:n.1283A>G | ||
| XM_006712737.1:c.920A>G | XP_006712800.1:p.His307Arg | |
| XM_006712739.1:c.1040A>G | XP_006712802.1:p.His347Arg | |
| XM_006712740.1:c.901-5765A>G | XP_006712803.1:n.901-5765A>G | |
| XM_011511811.1:c.1040A>G | XP_011510113.1:p.His347Arg | |
| XM_011511812.1:c.605A>G | XP_011510114.1:p.His202Arg | |
| XR_923025.1:n.1232-5765A>G | ||
| XM_017004893.1:c.1040A>G | XP_016860382.1:p.His347Arg | |
| XM_017004894.2:c.1021-5765A>G | XP_016860383.1:n.1021-5765A>G | |
| NM_024101.7:c.1040A>G MANE Select | NP_077006.1:p.His347Arg | |
| NM_001042467.3:c.1021-5765A>G | NP_001035932.1:n.1021-5765A>G | |
| NM_001281473.2:c.901-5765A>G | NP_001268402.1:n.901-5765A>G | |
| NM_001281474.2:c.676-5765A>G | NP_001268403.1:n.676-5765A>G | |
| NR_104019.2:n.1251A>G |