Linked Data
ClinVar Variation Id:
402193
ClinVar RCV Id:
RCV000454325
dbSNP Id:
rs1060499765
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.8737163T>A , CM000682.2:g.8737163T>A | GRCh38 |
| NC_000020.10:g.8717810T>A , CM000682.1:g.8717810T>A | GRCh37 |
| NC_000020.9:g.8665810T>A | NCBI36 |
| NG_028168.1:g.609515T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338037.11:c.2179T>A MANE Select | ENSP00000338185.6:p.Trp727Arg | |
| ENST00000635830.1:n.2250T>A | ||
| ENST00000636825.1:n.2043T>A | ||
| ENST00000637919.1:c.1876T>A | ENSP00000490862.1:p.Trp626Arg | |
| ENST00000338037.10:c.2179T>A | ENSP00000338185.6:p.Trp727Arg | |
| ENST00000378637.6:c.2179T>A | ENSP00000367904.2:p.Trp727Arg | |
| ENST00000378641.7:c.2179T>A | ENSP00000367908.3:p.Trp727Arg | |
| ENST00000439627.2:c.136T>A | ENSP00000391162.1:p.Trp46Arg | |
| ENST00000487210.5:c.1401T>A | ||
| ENST00000494924.2:n.1331T>A | ||
| ENST00000612075.4:c.1939T>A | ENSP00000479997.1:p.Trp647Arg | |
| ENST00000617005.4:c.1939T>A | ENSP00000477664.1:p.Trp647Arg | |
| ENST00000625874.2:c.1876T>A | ENSP00000486301.1:p.Trp626Arg | |
| ENST00000626966.2:c.1876T>A | ENSP00000487075.1:p.Trp626Arg | |
| NM_015192.3:c.2179T>A | NP_056007.1:p.Trp727Arg | |
| NM_182734.2:c.2179T>A | NP_877398.1:p.Trp727Arg | |
| XM_011529199.1:c.2179T>A | XP_011527501.1:p.Trp727Arg | |
| XM_011529200.1:c.1963T>A | XP_011527502.1:p.Trp655Arg | |
| XM_011529201.1:c.1876T>A | XP_011527503.1:p.Trp626Arg | |
| XM_011529203.1:c.406T>A | XP_011527505.1:p.Trp136Arg | |
| NM_015192.4:c.2179T>A MANE Select | NP_056007.1:p.Trp727Arg | |
| NM_182734.3:c.2179T>A | NP_877398.1:p.Trp727Arg |