Linked Data
ClinVar Variation Id:
1441779
ClinVar RCV Id:
RCV001950723
dbSNP Id:
rs1555482504
gnomAD v3:
16-9764203-C-G
gnomAD v4:
16-9764203-C-G
COSMIC:
COSM1253747
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9764203C>G , CM000678.2:g.9764203C>G | GRCh38 |
| NC_000016.9:g.9858060C>G , CM000678.1:g.9858060C>G | GRCh37 |
| NC_000016.8:g.9765561C>G | NCBI36 |
| NG_011812.1:g.423552G>C | |
| NG_011812.2:g.423552G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330684.4:c.3341G>C MANE Select | ENSP00000332549.3:p.Arg1114Thr | |
| ENST00000535259.6:c.2870G>C | ENSP00000441572.3:p.Arg957Thr | |
| ENST00000636273.2:n.2934G>C | ||
| ENST00000674742.1:c.2870G>C | ENSP00000502200.1:p.Arg957Thr | |
| ENST00000675398.1:c.*711G>C | ENSP00000502752.1:n.*711G>C | |
| ENST00000330684.3:c.3341G>C | ENSP00000332549.3:p.Arg1114Thr | |
| ENST00000396573.6:c.3341G>C | ENSP00000379818.2:p.Arg1114Thr | |
| ENST00000396575.6:c.2930G>C | ENSP00000379820.3:p.Arg977Thr | |
| ENST00000461292.3:n.2980G>C | ||
| ENST00000535259.5:c.2930G>C | ENSP00000441572.2:p.Arg977Thr | |
| ENST00000562109.5:c.3341G>C | ENSP00000454998.1:p.Arg1114Thr | |
| NM_000833.4:c.3341G>C | NP_000824.1:p.Arg1114Thr | |
| NM_001134407.2:c.3341G>C | NP_001127879.1:p.Arg1114Thr | |
| NM_001134408.2:c.3341G>C | NP_001127880.1:p.Arg1114Thr | |
| XM_011522456.1:c.3182G>C | XP_011520758.1:p.Arg1061Thr | |
| XM_011522457.1:c.3083G>C | XP_011520759.1:p.Arg1028Thr | |
| XM_011522458.1:c.2870G>C | XP_011520760.1:p.Arg957Thr | |
| XM_011522459.1:c.2870G>C | XP_011520761.1:p.Arg957Thr | |
| XM_011522460.1:c.2870G>C | XP_011520762.1:p.Arg957Thr | |
| XM_011522461.1:c.3341G>C | XP_011520763.1:p.Arg1114Thr | |
| XM_011522458.3:c.2870G>C | XP_011520760.1:p.Arg957Thr | |
| XM_011522461.3:c.3341G>C | XP_011520763.1:p.Arg1114Thr | |
| XM_017023172.1:c.3497G>C | XP_016878661.1:p.Arg1166Thr | |
| XM_017023173.1:c.3497G>C | XP_016878662.1:p.Arg1166Thr | |
| NM_001134407.3:c.3341G>C MANE Select | NP_001127879.1:p.Arg1114Thr | |
| NM_000833.5:c.3341G>C | NP_000824.1:p.Arg1114Thr |