Linked Data
ClinVar Variation Id:
1110763
ClinVar RCV Id:
RCV001437077
dbSNP Id:
rs767847651
gnomAD v4:
11-71435612-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435612C>G , CM000673.2:g.71435612C>G | GRCh38 |
| NC_000011.9:g.71146658C>G , CM000673.1:g.71146658C>G | GRCh37 |
| NC_000011.8:g.70824306C>G | NCBI36 |
| NG_012655.2:g.17820G>C , LRG_340:g.17820G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1191G>C | ENSP00000435707.3:p.Ser397= | |
| ENST00000526780.6:c.1191G>C | ENSP00000435668.2:p.Ser397= | |
| ENST00000527316.6:c.1017G>C | ENSP00000435047.2:p.Ser339= | |
| ENST00000682708.1:c.1242G>C | ENSP00000506866.1:p.Ser414= | |
| ENST00000683287.1:c.1227G>C | ENSP00000507607.1:p.Ser409= | |
| ENST00000683714.1:c.1199G>C | ENSP00000508207.1:p.Arg400Pro | |
| ENST00000684396.1:n.1231G>C | ||
| ENST00000685320.1:c.606G>C | ENSP00000509319.1:p.Ser202= | |
| ENST00000690257.1:c.1095G>C | ENSP00000510750.1:p.Ser365= | |
| ENST00000355527.8:c.1191G>C MANE Select | ENSP00000347717.4:p.Ser397= | |
| ENST00000355527.7:c.1191G>C | ENSP00000347717.3:p.Ser397= | |
| ENST00000407721.6:c.1191G>C | ENSP00000384739.2:p.Ser397= | |
| ENST00000525137.1:c.692G>C | ENSP00000435956.1:p.Arg231Pro | |
| ENST00000533800.5:c.441G>C | ENSP00000435011.1:p.Ser147= | |
| ENST00000534795.5:c.319+2200G>C | ||
| NM_001163817.1:c.1191G>C | NP_001157289.1:p.Ser397= | |
| NM_001360.2:c.1191G>C , LRG_340t1:c.1191G>C | NP_001351.2:p.Ser397= | |
| XM_011544777.1:c.1325G>C | XP_011543079.1:p.Arg442Pro | |
| XM_011544777.2:c.1325G>C | XP_011543079.1:p.Arg442Pro | |
| NM_001163817.2:c.1191G>C | NP_001157289.1:p.Ser397= | |
| NM_001360.3:c.1191G>C MANE Select | NP_001351.2:p.Ser397= |