Linked Data
ClinVar Variation Id:
336205
ClinVar RCV Id:
RCV000402894
dbSNP Id:
rs201502095
ExAC:
2:44539746 C / T
gnomAD v2:
2-44539746-C-T
gnomAD v3:
2-44312607-C-T
gnomAD v4:
2-44312607-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44312607C>T , CM000664.2:g.44312607C>T | GRCh38 |
| NC_000002.11:g.44539746C>T , CM000664.1:g.44539746C>T | GRCh37 |
| NC_000002.10:g.44393250C>T | NCBI36 |
| NG_008233.1:g.42150C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260649.11:c.1354C>T MANE Select | ENSP00000260649.6:p.Arg452Trp | |
| ENST00000649044.1:c.*1365C>T | ENSP00000497083.1:n.*1365C>T | |
| ENST00000260649.10:c.1354C>T | ENSP00000260649.6:p.Arg452Trp | |
| ENST00000409229.7:c.1354C>T | ENSP00000386620.3:p.Arg452Trp | |
| ENST00000409294.5:c.214C>T | ENSP00000386852.1:p.Arg72Trp | |
| ENST00000409380.5:c.520C>T | ENSP00000386709.1:p.Arg174Trp | |
| ENST00000409387.5:c.1354C>T | ENSP00000387308.1:p.Arg452Trp | |
| ENST00000409740.3:c.247C>T | ENSP00000386677.3:p.Arg83Trp | |
| ENST00000409741.5:c.1354C>T | ENSP00000386954.1:p.Arg452Trp | |
| ENST00000611973.4:c.1354C>T | ENSP00000483618.1:p.Arg452Trp | |
| NM_000341.3:c.1354C>T | NP_000332.2:p.Arg452Trp | |
| XM_011533047.1:c.1354C>T | XP_011531349.1:p.Arg452Trp | |
| XM_011533047.3:c.1354C>T | XP_011531349.1:p.Arg452Trp | |
| NM_000341.4:c.1354C>T MANE Select | NP_000332.2:p.Arg452Trp |